VARS2 (valyl-tRNA synthetase 2, mitochondrial) - Rat Genome Database

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Gene: VARS2 (valyl-tRNA synthetase 2, mitochondrial) Homo sapiens
Analyze
Symbol: VARS2
Name: valyl-tRNA synthetase 2, mitochondrial
RGD ID: 1346332
HGNC Page HGNC:21642
Description: Predicted to enable valine-tRNA ligase activity. Predicted to be involved in valyl-tRNA aminoacylation. Predicted to be located in mitochondrion. Predicted to be active in cytosol. Implicated in combined oxidative phosphorylation deficiency 20.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXPD20; G7a; MGC138259; MGC142165; valine tRNA ligase 2, mitochondrial (putative); valine--tRNA ligase; valine--tRNA ligase, mitochondrial; valRS; valyl-tRNA synthetase 2, mitochondrial (putative); valyl-tRNA synthetase 2-like; valyl-tRNA synthetase like; valyl-tRNA synthetase, mitochondrial; valyl-tRNA synthetase-like; VARS2L; VARSL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38630,914,238 - 30,926,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl630,914,205 - 30,926,459 (+)EnsemblGRCh38hg38GRCh38
GRCh37630,882,015 - 30,894,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,989,961 - 31,002,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 34630,989,960 - 31,002,212NCBI
Celera632,480,085 - 32,492,348 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,682,069 - 30,694,336 (+)NCBIHuRef
CHM1_1630,884,168 - 30,896,411 (+)NCBICHM1_1
T2T-CHM13v2.0630,778,904 - 30,791,138 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA)
mitochondrion  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11572484   PMID:12477932   PMID:14702039   PMID:15779907   PMID:18400783   PMID:18624398   PMID:19116923   PMID:19851445   PMID:20041166   PMID:20186120   PMID:20503108   PMID:20848476  
PMID:20877624   PMID:21682861   PMID:21873635   PMID:23449627   PMID:24827421   PMID:25058219   PMID:25404243   PMID:25416956   PMID:27025967   PMID:28514442   PMID:28986522   PMID:29137650  
PMID:29314548   PMID:29395067   PMID:29568061   PMID:29892012   PMID:29991511   PMID:30404004   PMID:30458719   PMID:30619736   PMID:31056398   PMID:31064326   PMID:31091453   PMID:31529142  
PMID:31617661   PMID:32296183   PMID:32628020   PMID:32694731   PMID:32877691   PMID:32941674   PMID:33226137   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:35831314  


Genomics

Comparative Map Data
VARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38630,914,238 - 30,926,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl630,914,205 - 30,926,459 (+)EnsemblGRCh38hg38GRCh38
GRCh37630,882,015 - 30,894,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,989,961 - 31,002,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 34630,989,960 - 31,002,212NCBI
Celera632,480,085 - 32,492,348 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,682,069 - 30,694,336 (+)NCBIHuRef
CHM1_1630,884,168 - 30,896,411 (+)NCBICHM1_1
T2T-CHM13v2.0630,778,904 - 30,791,138 (+)NCBIT2T-CHM13v2.0
Vars2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,966,526 - 35,978,531 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,966,526 - 35,978,484 (-)EnsemblGRCm39 Ensembl
GRCm381735,655,634 - 35,667,639 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,655,634 - 35,667,592 (-)EnsemblGRCm38mm10GRCm38
MGSCv371735,792,579 - 35,804,537 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,743,659 - 34,754,865 (-)NCBIMGSCv36mm8
MGSCv361735,264,443 - 35,275,645 (-)NCBIMGSCv36mm8
Cytogenetic Map17B1NCBI
Vars2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2203,077,132 - 3,087,994 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,077,132 - 3,087,994 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx203,128,469 - 3,139,341 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0203,133,442 - 3,144,314 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0203,159,764 - 3,170,643 (+)NCBIRnor_WKY
Rnor_6.0203,588,462 - 3,599,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl203,588,497 - 3,599,514 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0205,685,445 - 5,696,499 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,228,063 - 3,238,909 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1203,228,289 - 3,239,136 (+)NCBI
Celera20502,836 - 513,682 (+)NCBICelera
Cytogenetic Map20p12NCBI
Vars2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955583848,481 - 866,424 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955583848,166 - 862,360 (+)NCBIChiLan1.0ChiLan1.0
VARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1631,527,503 - 31,539,814 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl631,527,372 - 31,539,814 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0630,659,346 - 30,671,678 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
VARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112681,638 - 694,154 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12680,484 - 693,913 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12819,638 - 832,091 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.012826,116 - 838,552 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl12826,144 - 839,748 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.112685,417 - 697,855 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.012753,862 - 766,305 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.012821,750 - 834,201 (+)NCBIUU_Cfam_GSD_1.0
Vars2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494634,187,526 - 34,200,138 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936837552,839 - 565,530 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936837552,837 - 565,348 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,404,824 - 23,416,439 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,404,400 - 23,416,442 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,126,633 - 27,138,695 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11741,537,842 - 41,550,063 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1741,534,552 - 41,549,439 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604430,615,225 - 30,627,428 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vars2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475424,856,939 - 24,870,932 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475424,856,704 - 24,870,932 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VARS2
252 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3146
Count of miRNA genes:793
Interacting mature miRNAs:930
Transcripts:ENST00000321897, ENST00000416670, ENST00000421263, ENST00000428017, ENST00000467717, ENST00000469358, ENST00000473916, ENST00000476162, ENST00000477052, ENST00000477288, ENST00000490699, ENST00000541562, ENST00000542001
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G54139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,893,764 - 30,894,025UniSTSGRCh37
Build 36631,001,743 - 31,002,004RGDNCBI36
Celera632,491,876 - 32,492,137RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,693,864 - 30,694,125UniSTS
RH123958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,885,353 - 30,885,684UniSTSGRCh37
Build 36630,993,332 - 30,993,663RGDNCBI36
Celera632,483,448 - 32,483,779RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,685,438 - 30,685,769UniSTS
TNG Radiation Hybrid Map616212.0UniSTS
SHGC-170046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,883,399 - 30,883,687UniSTSGRCh37
Build 36630,991,378 - 30,991,666RGDNCBI36
Celera632,481,502 - 32,481,790RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,683,486 - 30,683,774UniSTS
TNG Radiation Hybrid Map616216.0UniSTS
D6S2698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,884,120 - 30,884,333UniSTSGRCh37
Build 36630,992,099 - 30,992,312RGDNCBI36
Celera632,482,215 - 32,482,428RGD
HuRef630,684,199 - 30,684,418UniSTS
RH37251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,894,006 - 30,894,158UniSTSGRCh37
Build 36631,001,985 - 31,002,137RGDNCBI36
Celera632,492,118 - 32,492,270RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,694,106 - 30,694,258UniSTS
GeneMap99-GB4 RH Map6118.61UniSTS
NCBI RH Map6475.1UniSTS
D6S1898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,893,975 - 30,894,233UniSTSGRCh37
Build 36631,001,954 - 31,002,212RGDNCBI36
Celera632,492,087 - 32,492,345RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,694,075 - 30,694,333UniSTS
GeneMap99-GB4 RH Map6117.86UniSTS
GeneMap99-GB4 RH Map6118.5UniSTS
Whitehead-RH Map6171.4UniSTS
D6S1168E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,893,985 - 30,894,216UniSTSGRCh37
Build 36631,001,964 - 31,002,195RGDNCBI36
Celera632,492,097 - 32,492,328RGD
Cytogenetic Map6p21.33UniSTS
HuRef630,694,085 - 30,694,316UniSTS
GeneMap99-GB4 RH Map6117.86UniSTS
MARC_6551-6552:992007295:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,879,487 - 30,880,195UniSTSGRCh37
Build 36630,987,466 - 30,988,174RGDNCBI36
Celera632,477,590 - 32,478,298RGD
HuRef630,679,574 - 30,680,282UniSTS
D6S2821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,884,153 - 30,884,309UniSTSGRCh37
Build 36630,992,132 - 30,992,288RGDNCBI36
Celera632,482,248 - 32,482,404RGD
HuRef630,684,232 - 30,684,394UniSTS
D6S2946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,885,748 - 30,885,962UniSTSGRCh37
GRCh371492,672,860 - 92,674,512UniSTSGRCh37
Build 36630,993,727 - 30,993,941RGDNCBI36
Celera632,483,843 - 32,484,057RGD
Celera1472,725,458 - 72,727,110UniSTS
HuRef630,685,833 - 30,686,047UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D6S2698  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.33UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2289 1742 1566 482 1267 336 4145 1704 3400 295 1377 1536 157 1171 2607 1
Low 149 1247 157 142 680 129 211 490 318 123 76 73 16 33 181 3 2
Below cutoff 1 2 2 3 2 12 1 6 4 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL773541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX927194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC307585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000321897   ⟹   ENSP00000316092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,205 - 30,926,459 (+)Ensembl
RefSeq Acc Id: ENST00000421263   ⟹   ENSP00000416390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,382 - 30,915,416 (+)Ensembl
RefSeq Acc Id: ENST00000428017   ⟹   ENSP00000403749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,252 - 30,917,799 (+)Ensembl
RefSeq Acc Id: ENST00000467717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,266 - 30,917,806 (+)Ensembl
RefSeq Acc Id: ENST00000469358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,918,764 - 30,926,459 (+)Ensembl
RefSeq Acc Id: ENST00000473916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,923,208 - 30,926,459 (+)Ensembl
RefSeq Acc Id: ENST00000476162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,919,826 - 30,926,459 (+)Ensembl
RefSeq Acc Id: ENST00000477052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,922,583 - 30,923,505 (+)Ensembl
RefSeq Acc Id: ENST00000490699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,916,428 - 30,917,761 (+)Ensembl
RefSeq Acc Id: ENST00000541562   ⟹   ENSP00000441000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,331 - 30,926,413 (+)Ensembl
RefSeq Acc Id: ENST00000625423   ⟹   ENSP00000485818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,220 - 30,926,456 (+)Ensembl
RefSeq Acc Id: ENST00000672801   ⟹   ENSP00000500615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,205 - 30,926,456 (+)Ensembl
RefSeq Acc Id: ENST00000676266   ⟹   ENSP00000502585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl630,914,238 - 30,926,459 (+)Ensembl
RefSeq Acc Id: NM_001167733   ⟹   NP_001161205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,914,238 - 30,926,459 (+)NCBI
GRCh37630,881,982 - 30,894,236 (+)RGD
Celera632,480,085 - 32,492,348 (+)RGD
HuRef630,682,069 - 30,694,336 (+)RGD
CHM1_1630,884,171 - 30,896,411 (+)NCBI
T2T-CHM13v2.0630,778,904 - 30,791,138 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167734   ⟹   NP_001161206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,914,238 - 30,926,459 (+)NCBI
GRCh37630,881,982 - 30,894,236 (+)RGD
Celera632,480,085 - 32,492,348 (+)RGD
HuRef630,682,069 - 30,694,336 (+)RGD
CHM1_1630,884,294 - 30,896,411 (+)NCBI
T2T-CHM13v2.0630,778,904 - 30,791,138 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020442   ⟹   NP_065175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,914,238 - 30,926,459 (+)NCBI
GRCh37630,881,982 - 30,894,236 (+)RGD
Build 36630,989,961 - 31,002,212 (+)NCBI Archive
Celera632,480,085 - 32,492,348 (+)RGD
HuRef630,682,069 - 30,694,336 (+)RGD
CHM1_1630,884,171 - 30,896,411 (+)NCBI
T2T-CHM13v2.0630,778,904 - 30,791,138 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065175   ⟸   NM_020442
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9UFH7 (UniProtKB/Swiss-Prot),   Q5ST30 (UniProtKB/Swiss-Prot),   B4DG77 (UniProtKB/TrEMBL),   B4E0K6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161205   ⟸   NM_001167733
- Peptide Label: isoform 3
- UniProtKB: Q5ST30 (UniProtKB/Swiss-Prot),   B4E0K6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161206   ⟸   NM_001167734
- Peptide Label: isoform 1
- UniProtKB: Q5ST30 (UniProtKB/Swiss-Prot),   A0A1U9X9B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000441000   ⟸   ENST00000541562
RefSeq Acc Id: ENSP00000403749   ⟸   ENST00000428017
RefSeq Acc Id: ENSP00000316092   ⟸   ENST00000321897
RefSeq Acc Id: ENSP00000485818   ⟸   ENST00000625423
RefSeq Acc Id: ENSP00000416390   ⟸   ENST00000421263
RefSeq Acc Id: ENSP00000500615   ⟸   ENST00000672801
RefSeq Acc Id: ENSP00000502585   ⟸   ENST00000676266
Protein Domains
Anticodon_1   tRNA-synt_1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5ST30-F1-model_v2 AlphaFold Q5ST30 1-1063 view protein structure

Promoters
RGD ID:6872440
Promoter ID:EPDNEW_H9385
Type:initiation region
Name:VARS2_1
Description:valyl-tRNA synthetase 2, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9386  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,914,261 - 30,914,321EPDNEW
RGD ID:6872442
Promoter ID:EPDNEW_H9386
Type:initiation region
Name:VARS2_2
Description:valyl-tRNA synthetase 2, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9385  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,914,427 - 30,914,487EPDNEW
RGD ID:6804188
Promoter ID:HG_KWN:52873
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376316,   OTTHUMT00000076565,   OTTHUMT00000257590,   UC003NSA.1,   UC003NSB.1,   UC010JSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36630,983,621 - 30,984,121 (+)MPROMDB
RGD ID:6805014
Promoter ID:HG_KWN:52876
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376306,   NM_001167733,   NM_001167734,   NM_020442,   OTTHUMT00000257811,   OTTHUMT00000257812,   UC003NSC.1,   UC003NSD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36630,988,966 - 30,990,167 (+)MPROMDB
RGD ID:6804992
Promoter ID:HG_KWN:52877
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000257813
Position:
Human AssemblyChrPosition (strand)Source
Build 36630,991,199 - 30,991,699 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) deletion Combined oxidative phosphorylation defect type 20 [RCV000578269] Chr6:30920731..30920733 [GRCh38]
Chr6:30888508..30888510 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001293011] Chr6:30925358 [GRCh38]
Chr6:30893135 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000129933] Chr6:30918886 [GRCh38]
Chr6:30886663 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000129935] Chr6:30921976 [GRCh38]
Chr6:30889753 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000129937]|Inborn genetic diseases [RCV000623604]|See cases [RCV002251995]|not provided [RCV001090482] Chr6:30918851 [GRCh38]
Chr6:30886628 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000578261]|Inborn genetic diseases [RCV000622841] Chr6:30915985 [GRCh38]
Chr6:30883762 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_020442.6(VARS2):c.2322C>T (p.Pro774=) single nucleotide variant not provided [RCV002166707] Chr6:30923361 [GRCh38]
Chr6:30891138 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2479C>G (p.Pro827Ala) single nucleotide variant not specified [RCV000238912] Chr6:30924366 [GRCh38]
Chr6:30892143 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.3091-6G>A single nucleotide variant not provided [RCV001718896] Chr6:30926103 [GRCh38]
Chr6:30893880 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.423G>A (p.Met141Ile) single nucleotide variant not provided [RCV000487589] Chr6:30915784 [GRCh38]
Chr6:30883561 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_020442.6(VARS2):c.3036C>G (p.Ser1012Arg) single nucleotide variant not provided [RCV000489697] Chr6:30925954 [GRCh38]
Chr6:30893731 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.608_609insCCC (p.Gly203_Val204insPro) insertion not provided [RCV000489734] Chr6:30916186..30916187 [GRCh38]
Chr6:30883963..30883964 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2090T>C (p.Ile697Thr) single nucleotide variant not provided [RCV001566739] Chr6:30922758 [GRCh38]
Chr6:30890535 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.1933-32A>C single nucleotide variant not provided [RCV001575196] Chr6:30922418 [GRCh38]
Chr6:30890195 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.671+1G>C single nucleotide variant not provided [RCV000595156] Chr6:30916250 [GRCh38]
Chr6:30884027 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.283+3A>G single nucleotide variant not provided [RCV001719121] Chr6:30915240 [GRCh38]
Chr6:30883017 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.986-14A>G single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000625985] Chr6:30918813 [GRCh38]
Chr6:30886590 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000578459] Chr6:30920670 [GRCh38]
Chr6:30888447 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2228G>A (p.Arg743Gln) single nucleotide variant not specified [RCV000414668] Chr6:30923146 [GRCh38]
Chr6:30890923 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) single nucleotide variant not provided [RCV000733468] Chr6:30920738 [GRCh38]
Chr6:30888515 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000709983]|not provided [RCV000676492]|not specified [RCV000413756] Chr6:30922159 [GRCh38]
Chr6:30889936 [GRCh37]
Chr6:6p21.33
uncertain significance|not provided
GRCh37/hg19 6p21.33(chr6:30860807-30957425)x3 copy number gain See cases [RCV000446768] Chr6:30860807..30957425 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2186-10T>C single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002244879]|not provided [RCV000676494]|not specified [RCV000420601] Chr6:30923094 [GRCh38]
Chr6:30890871 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000987663]|not provided [RCV000676493]|not specified [RCV000427193] Chr6:30922706 [GRCh38]
Chr6:30890483 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.3091-16T>C single nucleotide variant not provided [RCV002062500]|not specified [RCV000434286] Chr6:30926093 [GRCh38]
Chr6:30893870 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.1288C>T (p.Leu430=) single nucleotide variant not provided [RCV000676488]|not specified [RCV000445010] Chr6:30920211 [GRCh38]
Chr6:30887988 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.168G>T (p.Ala56=) single nucleotide variant not provided [RCV000676480]|not specified [RCV000445083] Chr6:30915004 [GRCh38]
Chr6:30882781 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2893G>A (p.Ala965Thr) single nucleotide variant not provided [RCV000676499]|not specified [RCV000417759] Chr6:30925651 [GRCh38]
Chr6:30893428 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1065G>A (p.Ser355=) single nucleotide variant not provided [RCV001703740] Chr6:30918906 [GRCh38]
Chr6:30886683 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.2658C>T (p.Pro886=) single nucleotide variant not provided [RCV000676497]|not specified [RCV000431274] Chr6:30924545 [GRCh38]
Chr6:30892322 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2106+18G>T single nucleotide variant not provided [RCV001522380]|not specified [RCV000437854] Chr6:30922792 [GRCh38]
Chr6:30890569 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2412C>T (p.Leu804=) single nucleotide variant not provided [RCV001510497]|not specified [RCV000417908] Chr6:30923451 [GRCh38]
Chr6:30891228 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2467-19C>T single nucleotide variant not provided [RCV002059663]|not specified [RCV000431537] Chr6:30924335 [GRCh38]
Chr6:30892112 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.639C>T (p.Ala213=) single nucleotide variant not specified [RCV000438121] Chr6:30916217 [GRCh38]
Chr6:30883994 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1557-5G>A single nucleotide variant not specified [RCV000441767] Chr6:30921225 [GRCh38]
Chr6:30889002 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000987664]|not provided [RCV000676498]|not specified [RCV000434969] Chr6:30925350 [GRCh38]
Chr6:30893127 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.3091-10C>T single nucleotide variant not provided [RCV002059802]|not specified [RCV000424545] Chr6:30926099 [GRCh38]
Chr6:30893876 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.2328C>T (p.Ser776=) single nucleotide variant not provided [RCV000676495]|not specified [RCV000435108] Chr6:30923367 [GRCh38]
Chr6:30891144 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1670C>A (p.Ala557Asp) single nucleotide variant not provided [RCV002064983]|not specified [RCV000438548] Chr6:30921626 [GRCh38]
Chr6:30889403 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2496G>C (p.Ser832=) single nucleotide variant not specified [RCV000418530] Chr6:30924383 [GRCh38]
Chr6:30892160 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.876G>A (p.Val292=) single nucleotide variant not provided [RCV000676485]|not specified [RCV000418723] Chr6:30917697 [GRCh38]
Chr6:30885474 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.-28+82T>C single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002244877]|not provided [RCV000676476]|not specified [RCV000421351] Chr6:30914426 [GRCh38]
Chr6:30882203 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.76C>T (p.His26Tyr) single nucleotide variant not provided [RCV000676479]|not specified [RCV000424880] Chr6:30914912 [GRCh38]
Chr6:30882689 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2673+11A>G single nucleotide variant not specified [RCV000442584] Chr6:30924571 [GRCh38]
Chr6:30892348 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2107-13C>T single nucleotide variant not specified [RCV000442607] Chr6:30922885 [GRCh38]
Chr6:30890662 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002244880]|not provided [RCV000676500]|not specified [RCV000428527] Chr6:30925951 [GRCh38]
Chr6:30893728 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.21C>T (p.Ala7=) single nucleotide variant not provided [RCV000676478]|not specified [RCV000432022] Chr6:30914857 [GRCh38]
Chr6:30882634 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.190G>A (p.Gly64Arg) single nucleotide variant not provided [RCV000676481]|not specified [RCV000432036] Chr6:30915026 [GRCh38]
Chr6:30882803 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.3146G>A (p.Arg1049Gln) single nucleotide variant not provided [RCV000676501]|not specified [RCV000439193] Chr6:30926164 [GRCh38]
Chr6:30893941 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1864C>T (p.Leu622=) single nucleotide variant not specified [RCV000442695] Chr6:30922173 [GRCh38]
Chr6:30889950 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2578C>T (p.Leu860=) single nucleotide variant not provided [RCV001510290]|not specified [RCV000439240] Chr6:30924465 [GRCh38]
Chr6:30892242 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1233C>T (p.Ser411=) single nucleotide variant not specified [RCV000439376] Chr6:30920156 [GRCh38]
Chr6:30887933 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.574-9C>T single nucleotide variant not provided [RCV000676482]|not specified [RCV000425502] Chr6:30916143 [GRCh38]
Chr6:30883920 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys) single nucleotide variant not provided [RCV000426536] Chr6:30924387 [GRCh38]
Chr6:30892164 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002244878]|not provided [RCV000676487]|not specified [RCV000432737] Chr6:30920195 [GRCh38]
Chr6:30887972 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe) single nucleotide variant not provided [RCV000514934]|not specified [RCV000429442] Chr6:30921099 [GRCh38]
Chr6:30888876 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.-28+14G>C single nucleotide variant not specified [RCV000429638] Chr6:30914358 [GRCh38]
Chr6:30882135 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1074+15G>A single nucleotide variant not provided [RCV001703870] Chr6:30918930 [GRCh38]
Chr6:30886707 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000987661]|not provided [RCV000676489]|not specified [RCV000426168] Chr6:30920384 [GRCh38]
Chr6:30888161 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2106+18G>A single nucleotide variant not specified [RCV000433033] Chr6:30922792 [GRCh38]
Chr6:30890569 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1480-9T>C single nucleotide variant not provided [RCV002062511]|not specified [RCV000436569] Chr6:30921056 [GRCh38]
Chr6:30888833 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.864G>A (p.Ser288=) single nucleotide variant not provided [RCV000676484] Chr6:30917215 [GRCh38]
Chr6:30884992 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1656T>C (p.Val552=) single nucleotide variant not provided [RCV000676491]|not specified [RCV000443955] Chr6:30921612 [GRCh38]
Chr6:30889389 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1353G>A (p.Leu451=) single nucleotide variant not provided [RCV000676490]|not specified [RCV000437198] Chr6:30920392 [GRCh38]
Chr6:30888169 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) single nucleotide variant not provided [RCV000440067] Chr6:30923211 [GRCh38]
Chr6:30890988 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.1131C>T (p.Ile377=) single nucleotide variant not specified [RCV000444667] Chr6:30919814 [GRCh38]
Chr6:30887591 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.-27-21CT[4] microsatellite not provided [RCV001712447] Chr6:30914789..30914790 [GRCh38]
Chr6:30882566..30882567 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334849]|not provided [RCV000514806] Chr6:30924438 [GRCh38]
Chr6:30892215 [GRCh37]
Chr6:6p21.33
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_020442.6(VARS2):c.2913G>A (p.Trp971Ter) single nucleotide variant not provided [RCV000498516] Chr6:30925671 [GRCh38]
Chr6:30893448 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.911G>A (p.Arg304Gln) single nucleotide variant not provided [RCV000498604] Chr6:30917732 [GRCh38]
Chr6:30885509 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000625984]|See cases [RCV002252181]|not provided [RCV000676486] Chr6:30920091 [GRCh38]
Chr6:30887868 [GRCh37]
Chr6:6p21.33
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020442.6(VARS2):c.-36G>A single nucleotide variant not specified [RCV000606497] Chr6:30914336 [GRCh38]
Chr6:30882113 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1073C>T (p.Thr358Ile) single nucleotide variant Inborn genetic diseases [RCV000623799]|not provided [RCV001577439] Chr6:30918914 [GRCh38]
Chr6:30886691 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1660C>T (p.Arg554Trp) single nucleotide variant not provided [RCV000514593] Chr6:30921616 [GRCh38]
Chr6:30889393 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.874-7C>T single nucleotide variant not provided [RCV001712697] Chr6:30917688 [GRCh38]
Chr6:30885465 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.507-8T>C single nucleotide variant not specified [RCV000612681] Chr6:30915973 [GRCh38]
Chr6:30883750 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg) single nucleotide variant not provided [RCV000676483] Chr6:30916185 [GRCh38]
Chr6:30883962 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.315C>T (p.Ser105=) single nucleotide variant not provided [RCV001697507] Chr6:30915386 [GRCh38]
Chr6:30883163 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.69C>A (p.Pro23=) single nucleotide variant not specified [RCV000607935] Chr6:30914905 [GRCh38]
Chr6:30882682 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2674-15C>T single nucleotide variant not specified [RCV000616692] Chr6:30925259 [GRCh38]
Chr6:30893036 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2785+13G>A single nucleotide variant not provided [RCV001722642] Chr6:30925398 [GRCh38]
Chr6:30893175 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1338G>A (p.Leu446=) single nucleotide variant not provided [RCV001722613] Chr6:30920377 [GRCh38]
Chr6:30888154 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.672-16A>C single nucleotide variant not provided [RCV002064184]|not specified [RCV000614077] Chr6:30916862 [GRCh38]
Chr6:30884639 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.730C>A (p.Arg244=) single nucleotide variant not specified [RCV000614260] Chr6:30916936 [GRCh38]
Chr6:30884713 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1083C>T (p.His361=) single nucleotide variant not specified [RCV000611615] Chr6:30919766 [GRCh38]
Chr6:30887543 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2786-6T>C single nucleotide variant not provided [RCV001698443] Chr6:30925538 [GRCh38]
Chr6:30893315 [GRCh37]
Chr6:6p21.33
likely benign
NM_006295.3(VARS1):c.1981C>A (p.Pro661Thr) single nucleotide variant Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [RCV000625726] Chr6:31782540 [GRCh38]
Chr6:31750317 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.-27-1G>T single nucleotide variant not provided [RCV000676477] Chr6:30914809 [GRCh38]
Chr6:30882586 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2330C>T (p.Pro777Leu) single nucleotide variant not provided [RCV000676496] Chr6:30923369 [GRCh38]
Chr6:30891146 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000714819] Chr6:30926116 [GRCh38]
Chr6:30893893 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1166-15G>T single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001808111] Chr6:30920074 [GRCh38]
Chr6:30887851 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_020442.6(VARS2):c.671+205GT[11] indel not provided [RCV001530608] Chr6:30916454..30916455 [GRCh38]
Chr6:30884231..30884232 [GRCh37]
Chr6:6p21.33
likely benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
NM_020442.6(VARS2):c.985+257TTTG[4] microsatellite not provided [RCV001608780] Chr6:30918063..30918066 [GRCh38]
Chr6:30885840..30885843 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1933-33_1933-32insG insertion not provided [RCV001583307] Chr6:30922417..30922418 [GRCh38]
Chr6:30890194..30890195 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.3091-3C>T single nucleotide variant not provided [RCV001549318] Chr6:30926106 [GRCh38]
Chr6:30893883 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys) single nucleotide variant not provided [RCV001585212] Chr6:30924471 [GRCh38]
Chr6:30892248 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.574-27G>T single nucleotide variant not provided [RCV001585478] Chr6:30916125 [GRCh38]
Chr6:30883902 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2467-145T>C single nucleotide variant not provided [RCV001575093] Chr6:30924209 [GRCh38]
Chr6:30891986 [GRCh37]
Chr6:6p21.33
likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_020442.6(VARS2):c.-27-172C>T single nucleotide variant not provided [RCV000832642] Chr6:30914638 [GRCh38]
Chr6:30882415 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1074+37C>T single nucleotide variant not provided [RCV000835871] Chr6:30918952 [GRCh38]
Chr6:30886729 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.104A>G (p.His35Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000791151] Chr6:30914940 [GRCh38]
Chr6:30882717 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.985+238G>A single nucleotide variant not provided [RCV000828669] Chr6:30918044 [GRCh38]
Chr6:30885821 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2124C>T (p.His708=) single nucleotide variant not provided [RCV000840127] Chr6:30922915 [GRCh38]
Chr6:30890692 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001270040]|not provided [RCV000998552]|not specified [RCV001732009] Chr6:30921647 [GRCh38]
Chr6:30889424 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020442.6(VARS2):c.1398-107G>A single nucleotide variant not provided [RCV000834969] Chr6:30920561 [GRCh38]
Chr6:30888338 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.574-42_574-35del microsatellite Combined oxidative phosphorylation defect type 20 [RCV002245705]|not provided [RCV000836208] Chr6:30916102..30916109 [GRCh38]
Chr6:30883879..30883886 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2961+69del deletion not provided [RCV000836593] Chr6:30925786 [GRCh38]
Chr6:30893563 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV000791150]|not provided [RCV001509267] Chr6:30925938 [GRCh38]
Chr6:30893715 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.671+229A>T single nucleotide variant not provided [RCV000828667] Chr6:30916478 [GRCh38]
Chr6:30884255 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1075-224C>T single nucleotide variant not provided [RCV000828671] Chr6:30919534 [GRCh38]
Chr6:30887311 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.-27-156C>T single nucleotide variant not provided [RCV000835895] Chr6:30914654 [GRCh38]
Chr6:30882431 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1074+235G>C single nucleotide variant not provided [RCV000833093] Chr6:30919150 [GRCh38]
Chr6:30886927 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2466+168G>C single nucleotide variant not provided [RCV000833095] Chr6:30923673 [GRCh38]
Chr6:30891450 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.986-254C>G single nucleotide variant not provided [RCV000828670] Chr6:30918573 [GRCh38]
Chr6:30886350 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2673+255G>C single nucleotide variant not provided [RCV000828673] Chr6:30924815 [GRCh38]
Chr6:30892592 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1075-191T>C single nucleotide variant not provided [RCV000828672] Chr6:30919567 [GRCh38]
Chr6:30887344 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.672-219A>G single nucleotide variant not provided [RCV000828668] Chr6:30916659 [GRCh38]
Chr6:30884436 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2673+184G>A single nucleotide variant not provided [RCV000844537] Chr6:30924744 [GRCh38]
Chr6:30892521 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1166-83_1166-67dup microsatellite not provided [RCV000835886] Chr6:30920003..30920004 [GRCh38]
Chr6:30887780..30887781 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001169882] Chr6:30921593 [GRCh38]
Chr6:30889370 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.513_516dup (p.Arg173fs) duplication not provided [RCV000998551] Chr6:30915985..30915986 [GRCh38]
Chr6:30883762..30883763 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001201409] Chr6:30922940 [GRCh38]
Chr6:30890717 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001201407]|not provided [RCV002253783] Chr6:30920726 [GRCh38]
Chr6:30888503 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic
NM_020442.6(VARS2):c.1074+32C>T single nucleotide variant not provided [RCV001576064] Chr6:30918947 [GRCh38]
Chr6:30886724 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2673+150C>T single nucleotide variant not provided [RCV001549982] Chr6:30924710 [GRCh38]
Chr6:30892487 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1633-74C>T single nucleotide variant not provided [RCV001545120] Chr6:30921515 [GRCh38]
Chr6:30889292 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1933-69G>A single nucleotide variant not provided [RCV001555236] Chr6:30922381 [GRCh38]
Chr6:30890158 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.671+219_671+220insGGTG insertion not provided [RCV001671199] Chr6:30916465..30916466 [GRCh38]
Chr6:30884242..30884243 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.985+103T>A single nucleotide variant not provided [RCV001638981] Chr6:30917909 [GRCh38]
Chr6:30885686 [GRCh37]
Chr6:6p21.33
benign
NM_001517.5(GTF2H4):c.*121del deletion not provided [RCV001638349] Chr6:30914104 [GRCh38]
Chr6:30881881 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.-27-81T>C single nucleotide variant not provided [RCV001561978] Chr6:30914729 [GRCh38]
Chr6:30882506 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.671+205GT[13] indel not provided [RCV001696287] Chr6:30916453..30916454 [GRCh38]
Chr6:30884230..30884231 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+231_671+232dup duplication not provided [RCV001620003] Chr6:30916478..30916479 [GRCh38]
Chr6:30884255..30884256 [GRCh37]
Chr6:6p21.33
benign
Single allele deletion not provided [RCV001569889] Chr6:30914114..30914125 [GRCh38]
Chr6:30881891..30881902 [GRCh37]
Chr6:6p21.33
likely benign
NM_001517.5(GTF2H4):c.*39T>A single nucleotide variant not provided [RCV001552564] Chr6:30914022 [GRCh38]
Chr6:30881799 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.671+232TA[10] microsatellite not provided [RCV001674884] Chr6:30916480..30916481 [GRCh38]
Chr6:30884257..30884258 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1074+38G>A single nucleotide variant not provided [RCV001587917] Chr6:30918953 [GRCh38]
Chr6:30886730 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.251_270del (p.Tyr84fs) deletion not provided [RCV001590201] Chr6:30915205..30915224 [GRCh38]
Chr6:30882982..30883001 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001201410] Chr6:30918901 [GRCh38]
Chr6:30886678 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.671+232TA[11] microsatellite not provided [RCV001562258] Chr6:30916480..30916481 [GRCh38]
Chr6:30884257..30884258 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.671+247A>T single nucleotide variant not provided [RCV001562512] Chr6:30916496 [GRCh38]
Chr6:30884273 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.938C>A (p.Ser313Tyr) single nucleotide variant not provided [RCV001732549] Chr6:30917759 [GRCh38]
Chr6:30885536 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.23C>A (p.Ser8Tyr) single nucleotide variant not provided [RCV001732493] Chr6:30914859 [GRCh38]
Chr6:30882636 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) deletion Combined oxidative phosphorylation defect type 20 [RCV000987662] Chr6:30922143..30922144 [GRCh38]
Chr6:30889920..30889921 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002243307]|not provided [RCV001576755] Chr6:30924476 [GRCh38]
Chr6:30892253 [GRCh37]
Chr6:6p21.33
conflicting interpretations of pathogenicity|uncertain significance
NM_020442.6(VARS2):c.1632+38A>G single nucleotide variant not provided [RCV001717043] Chr6:30921343 [GRCh38]
Chr6:30889120 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2467-77A>G single nucleotide variant not provided [RCV001717044] Chr6:30924277 [GRCh38]
Chr6:30892054 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1479+91G>A single nucleotide variant not provided [RCV001597798] Chr6:30920840 [GRCh38]
Chr6:30888617 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+205GT[15] indel not provided [RCV001581283] Chr6:30916453..30916454 [GRCh38]
Chr6:30884230..30884231 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2673+40G>C single nucleotide variant not provided [RCV001620514] Chr6:30924600 [GRCh38]
Chr6:30892377 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2674-51del deletion not provided [RCV001620711] Chr6:30925223 [GRCh38]
Chr6:30893000 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2466+168del deletion not provided [RCV001636287] Chr6:30923672 [GRCh38]
Chr6:30891449 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.753+70A>C single nucleotide variant not provided [RCV001648802] Chr6:30917029 [GRCh38]
Chr6:30884806 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2038-52A>G single nucleotide variant not provided [RCV001648820] Chr6:30922654 [GRCh38]
Chr6:30890431 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1075-293G>A single nucleotide variant not provided [RCV001681005] Chr6:30919465 [GRCh38]
Chr6:30887242 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+225G>A single nucleotide variant not provided [RCV001614436] Chr6:30916474 [GRCh38]
Chr6:30884251 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1932+37T>C single nucleotide variant not provided [RCV001714368] Chr6:30922278 [GRCh38]
Chr6:30890055 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+205GT[14] indel not provided [RCV001681402] Chr6:30916453..30916454 [GRCh38]
Chr6:30884230..30884231 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1633-106G>A single nucleotide variant not provided [RCV001667770] Chr6:30921483 [GRCh38]
Chr6:30889260 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.-27-74A>G single nucleotide variant not provided [RCV001649715] Chr6:30914736 [GRCh38]
Chr6:30882513 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2786-70G>A single nucleotide variant not provided [RCV001714370] Chr6:30925474 [GRCh38]
Chr6:30893251 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2826C>T (p.Phe942=) single nucleotide variant not provided [RCV001574587] Chr6:30925584 [GRCh38]
Chr6:30893361 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001201408] Chr6:30920670 [GRCh38]
Chr6:30888447 [GRCh37]
Chr6:6p21.33
pathogenic|uncertain significance
NM_020442.6(VARS2):c.2467-2A>G single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001201411]|not provided [RCV001312050] Chr6:30924352 [GRCh38]
Chr6:30892129 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.2038-1G>A single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334847] Chr6:30922705 [GRCh38]
Chr6:30890482 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334853]|not provided [RCV001871863] Chr6:30926110 [GRCh38]
Chr6:30893887 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334854] Chr6:30916942 [GRCh38]
Chr6:30884719 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1270_1271insA (p.Ser424fs) insertion Combined oxidative phosphorylation deficiency 20 [RCV001330429] Chr6:30920193..30920194 [GRCh38]
Chr6:30887970..30887971 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001330432]|not provided [RCV001576779] Chr6:30925923 [GRCh38]
Chr6:30893700 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334848] Chr6:30914978 [GRCh38]
Chr6:30882755 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.969C>T (p.Pro323=) single nucleotide variant not provided [RCV001787561] Chr6:30917790 [GRCh38]
Chr6:30885567 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001330433]|not provided [RCV001871812] Chr6:30915229 [GRCh38]
Chr6:30883006 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2684G>A (p.Arg895His) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334851] Chr6:30925284 [GRCh38]
Chr6:30893061 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.605G>C (p.Arg202Pro) single nucleotide variant not provided [RCV001312049] Chr6:30916183 [GRCh38]
Chr6:30883960 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2501G>A (p.Arg834His) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001330430] Chr6:30924388 [GRCh38]
Chr6:30892165 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) duplication Combined oxidative phosphorylation defect type 20 [RCV001330431] Chr6:30925619..30925620 [GRCh38]
Chr6:30893396..30893397 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334846]|See cases [RCV002252364] Chr6:30922471 [GRCh38]
Chr6:30890248 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001330434]|not provided [RCV002261342] Chr6:30916209 [GRCh38]
Chr6:30883986 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001334850]|not provided [RCV001859328] Chr6:30924511 [GRCh38]
Chr6:30892288 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.3004C>T (p.Arg1002Ter) single nucleotide variant not provided [RCV001893955] Chr6:30925922 [GRCh38]
Chr6:30893699 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1933-32A>G single nucleotide variant not provided [RCV001616886] Chr6:30922418 [GRCh38]
Chr6:30890195 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1484T>G (p.Val495Gly) single nucleotide variant not provided [RCV001509265] Chr6:30921069 [GRCh38]
Chr6:30888846 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.201+42A>G single nucleotide variant not provided [RCV001653385] Chr6:30915079 [GRCh38]
Chr6:30882856 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.-28+156C>T single nucleotide variant not provided [RCV001684413] Chr6:30914500 [GRCh38]
Chr6:30882277 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+227G>A single nucleotide variant not provided [RCV001671252] Chr6:30916476 [GRCh38]
Chr6:30884253 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2185+36G>A single nucleotide variant not provided [RCV001686308] Chr6:30923012 [GRCh38]
Chr6:30890789 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.-28+89C>T single nucleotide variant not provided [RCV001665385] Chr6:30914433 [GRCh38]
Chr6:30882210 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1933-21T>C single nucleotide variant not provided [RCV001650292] Chr6:30922429 [GRCh38]
Chr6:30890206 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2785+64C>G single nucleotide variant not provided [RCV001715702] Chr6:30925449 [GRCh38]
Chr6:30893226 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+174G>A single nucleotide variant not provided [RCV001708441] Chr6:30916423 [GRCh38]
Chr6:30884200 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.985+56A>G single nucleotide variant not provided [RCV001612037] Chr6:30917862 [GRCh38]
Chr6:30885639 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.671+232TA[12] microsatellite not provided [RCV001587631] Chr6:30916480..30916481 [GRCh38]
Chr6:30884257..30884258 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1075-70C>T single nucleotide variant not provided [RCV001583454] Chr6:30919688 [GRCh38]
Chr6:30887465 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.3090+46G>A single nucleotide variant not provided [RCV001717045] Chr6:30926054 [GRCh38]
Chr6:30893831 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1661G>A (p.Arg554Gln) single nucleotide variant not provided [RCV001509266] Chr6:30921617 [GRCh38]
Chr6:30889394 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1557-18C>T single nucleotide variant not provided [RCV001478052] Chr6:30921212 [GRCh38]
Chr6:30888989 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2107-22CTT[2] microsatellite not provided [RCV001519044] Chr6:30922876..30922878 [GRCh38]
Chr6:30890653..30890655 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1058A>C (p.Asp353Ala) single nucleotide variant not provided [RCV001727351] Chr6:30918899 [GRCh38]
Chr6:30886676 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2037G>T (p.Gln679His) single nucleotide variant not provided [RCV001763262] Chr6:30922554 [GRCh38]
Chr6:30890331 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro) single nucleotide variant not provided [RCV001787607] Chr6:30915812 [GRCh38]
Chr6:30883589 [GRCh37]
Chr6:6p21.33
conflicting interpretations of pathogenicity|uncertain significance
NM_020442.6(VARS2):c.2061C>T (p.Ser687=) single nucleotide variant not provided [RCV001733149] Chr6:30922729 [GRCh38]
Chr6:30890506 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.482C>G (p.Ala161Gly) single nucleotide variant not provided [RCV001774401] Chr6:30915843 [GRCh38]
Chr6:30883620 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.679G>A (p.Gly227Arg) single nucleotide variant not provided [RCV001754130] Chr6:30916885 [GRCh38]
Chr6:30884662 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1556G>C (p.Gly519Ala) single nucleotide variant not provided [RCV001765307] Chr6:30921141 [GRCh38]
Chr6:30888918 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.-18_-12del deletion Combined oxidative phosphorylation defect type 20 [RCV001803623] Chr6:30914817..30914823 [GRCh38]
Chr6:30882594..30882600 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1933-4C>T single nucleotide variant not provided [RCV001732969] Chr6:30922446 [GRCh38]
Chr6:30890223 [GRCh37]
Chr6:6p21.33
benign|likely benign
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33
likely pathogenic
NM_020442.6(VARS2):c.1806+44G>T single nucleotide variant not provided [RCV001733283] Chr6:30922039 [GRCh38]
Chr6:30889816 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001808112] Chr6:30925292 [GRCh38]
Chr6:30893069 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2752G>C (p.Ala918Pro) single nucleotide variant not provided [RCV001864106] Chr6:30925352 [GRCh38]
Chr6:30893129 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1969C>T (p.Arg657Trp) single nucleotide variant not provided [RCV001896482] Chr6:30922486 [GRCh38]
Chr6:30890263 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2749C>T (p.Arg917Ter) single nucleotide variant not provided [RCV001914078] Chr6:30925349 [GRCh38]
Chr6:30893126 [GRCh37]
Chr6:6p21.33
pathogenic
NM_020442.6(VARS2):c.1396A>G (p.Ser466Gly) single nucleotide variant not provided [RCV002045014] Chr6:30920435 [GRCh38]
Chr6:30888212 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2683C>T (p.Arg895Cys) single nucleotide variant not provided [RCV001948505] Chr6:30925283 [GRCh38]
Chr6:30893060 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1163C>T (p.Thr388Met) single nucleotide variant not provided [RCV001947516] Chr6:30919846 [GRCh38]
Chr6:30887623 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1183C>G (p.Pro395Ala) single nucleotide variant not provided [RCV001847442] Chr6:30920106 [GRCh38]
Chr6:30887883 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1120C>T (p.Leu374Phe) single nucleotide variant not provided [RCV002021069] Chr6:30919803 [GRCh38]
Chr6:30887580 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1167G>T (p.Gly389=) single nucleotide variant not provided [RCV001985525] Chr6:30920090 [GRCh38]
Chr6:30887867 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.614G>C (p.Arg205Thr) single nucleotide variant not provided [RCV001912567] Chr6:30916192 [GRCh38]
Chr6:30883969 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2495C>T (p.Ser832Leu) single nucleotide variant not provided [RCV001912148] Chr6:30924382 [GRCh38]
Chr6:30892159 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.251A>G (p.Tyr84Cys) single nucleotide variant not provided [RCV001969485] Chr6:30915205 [GRCh38]
Chr6:30882982 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.863C>T (p.Ser288Leu) single nucleotide variant not provided [RCV001894007] Chr6:30917214 [GRCh38]
Chr6:30884991 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1735+1G>T single nucleotide variant not provided [RCV001843659] Chr6:30921692 [GRCh38]
Chr6:30889469 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.263C>T (p.Thr88Met) single nucleotide variant not provided [RCV001909178] Chr6:30915217 [GRCh38]
Chr6:30882994 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1625A>G (p.His542Arg) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV001837242] Chr6:30921298 [GRCh38]
Chr6:30889075 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2467G>A (p.Glu823Lys) single nucleotide variant not provided [RCV001961987] Chr6:30924354 [GRCh38]
Chr6:30892131 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly) single nucleotide variant not provided [RCV001931399] Chr6:30923414 [GRCh38]
Chr6:30891191 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.-28+87C>T single nucleotide variant not provided [RCV001923382] Chr6:30914431 [GRCh38]
Chr6:30882208 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2902C>A (p.Pro968Thr) single nucleotide variant not provided [RCV002030829] Chr6:30925660 [GRCh38]
Chr6:30893437 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2721A>T (p.Gln907His) single nucleotide variant not provided [RCV001877562] Chr6:30925321 [GRCh38]
Chr6:30893098 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2831C>G (p.Ala944Gly) single nucleotide variant not provided [RCV002013068] Chr6:30925589 [GRCh38]
Chr6:30893366 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.814C>T (p.Arg272Trp) single nucleotide variant not provided [RCV001922652] Chr6:30917165 [GRCh38]
Chr6:30884942 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2429A>G (p.His810Arg) single nucleotide variant not provided [RCV001990489] Chr6:30923468 [GRCh38]
Chr6:30891245 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2498C>T (p.Pro833Leu) single nucleotide variant not provided [RCV001992158] Chr6:30924385 [GRCh38]
Chr6:30892162 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1851G>A (p.Thr617=) single nucleotide variant not provided [RCV001958111] Chr6:30922160 [GRCh38]
Chr6:30889937 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2963G>T (p.Gly988Val) single nucleotide variant not provided [RCV001878945] Chr6:30925881 [GRCh38]
Chr6:30893658 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.12_13delinsTT (p.Leu4_Pro5delinsPheSer) indel not provided [RCV001971803] Chr6:30914848..30914849 [GRCh38]
Chr6:30882625..30882626 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1084G>A (p.Gly362Arg) single nucleotide variant not provided [RCV001957335] Chr6:30919767 [GRCh38]
Chr6:30887544 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1201G>A (p.Asp401Asn) single nucleotide variant not provided [RCV002018127] Chr6:30920124 [GRCh38]
Chr6:30887901 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1048G>A (p.Val350Ile) single nucleotide variant not provided [RCV001989492] Chr6:30918889 [GRCh38]
Chr6:30886666 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2354G>A (p.Arg785His) single nucleotide variant not provided [RCV001923841] Chr6:30923393 [GRCh38]
Chr6:30891170 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2353C>T (p.Arg785Cys) single nucleotide variant not provided [RCV001940241] Chr6:30923392 [GRCh38]
Chr6:30891169 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.3031G>C (p.Asp1011His) single nucleotide variant not provided [RCV002016099] Chr6:30925949 [GRCh38]
Chr6:30893726 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.715T>C (p.Ser239Pro) single nucleotide variant not provided [RCV001933008] Chr6:30916921 [GRCh38]
Chr6:30884698 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1556+1G>A single nucleotide variant not provided [RCV001998954] Chr6:30921142 [GRCh38]
Chr6:30888919 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.2036A>G (p.Gln679Arg) single nucleotide variant not provided [RCV001921424] Chr6:30922553 [GRCh38]
Chr6:30890330 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.295C>T (p.Pro99Ser) single nucleotide variant not provided [RCV002009902] Chr6:30915366 [GRCh38]
Chr6:30883143 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1447C>T (p.Arg483Cys) single nucleotide variant not provided [RCV001972196] Chr6:30920717 [GRCh38]
Chr6:30888494 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2108A>G (p.Lys703Arg) single nucleotide variant not provided [RCV001867499] Chr6:30922899 [GRCh38]
Chr6:30890676 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2545G>A (p.Gly849Ser) single nucleotide variant not provided [RCV001974281] Chr6:30924432 [GRCh38]
Chr6:30892209 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.3053del (p.Pro1018fs) deletion not provided [RCV001879632] Chr6:30925968 [GRCh38]
Chr6:30893745 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2535C>T (p.Cys845=) single nucleotide variant not provided [RCV002085849] Chr6:30924422 [GRCh38]
Chr6:30892199 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.69C>G (p.Pro23=) single nucleotide variant not provided [RCV002112287] Chr6:30914905 [GRCh38]
Chr6:30882682 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2325C>T (p.Ser775=) single nucleotide variant not provided [RCV002206776] Chr6:30923364 [GRCh38]
Chr6:30891141 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.753+19G>C single nucleotide variant not provided [RCV002209770] Chr6:30916978 [GRCh38]
Chr6:30884755 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV002106705] Chr6:30914854 [GRCh38]
Chr6:30882631 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2292_2295delinsACCT (p.Phe764_Val765delinsLeuPro) indel not provided [RCV002245115] Chr6:30923210..30923213 [GRCh38]
Chr6:30890987..30890990 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.2322C>G (p.Pro774=) single nucleotide variant not provided [RCV002097299] Chr6:30923361 [GRCh38]
Chr6:30891138 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.574-7A>C single nucleotide variant not provided [RCV002086363] Chr6:30916145 [GRCh38]
Chr6:30883922 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1166-6C>T single nucleotide variant not provided [RCV002076847] Chr6:30920083 [GRCh38]
Chr6:30887860 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1736-19T>C single nucleotide variant not provided [RCV002134382] Chr6:30921906 [GRCh38]
Chr6:30889683 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.789G>T (p.Arg263=) single nucleotide variant not provided [RCV002212749] Chr6:30917140 [GRCh38]
Chr6:30884917 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.873+7C>T single nucleotide variant not provided [RCV002165626] Chr6:30917231 [GRCh38]
Chr6:30885008 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.495C>T (p.Ala165=) single nucleotide variant not provided [RCV002196395] Chr6:30915856 [GRCh38]
Chr6:30883633 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2704C>T (p.Arg902Cys) single nucleotide variant not provided [RCV002124820] Chr6:30925304 [GRCh38]
Chr6:30893081 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.912A>G (p.Arg304=) single nucleotide variant not provided [RCV002152759] Chr6:30917733 [GRCh38]
Chr6:30885510 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1736-12T>C single nucleotide variant not provided [RCV002149781] Chr6:30921913 [GRCh38]
Chr6:30889690 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2790G>A (p.Leu930=) single nucleotide variant not provided [RCV002214381] Chr6:30925548 [GRCh38]
Chr6:30893325 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.570A>G (p.Thr190=) single nucleotide variant not provided [RCV002095087] Chr6:30916044 [GRCh38]
Chr6:30883821 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.1629G>A (p.Ala543=) single nucleotide variant not provided [RCV002127287] Chr6:30921302 [GRCh38]
Chr6:30889079 [GRCh37]
Chr6:6p21.33
benign
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val) single nucleotide variant not provided [RCV002136249] Chr6:30925898 [GRCh38]
Chr6:30893675 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity
NM_020442.6(VARS2):c.2038-14C>A single nucleotide variant not provided [RCV002163048] Chr6:30922692 [GRCh38]
Chr6:30890469 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.2314-13C>T single nucleotide variant not provided [RCV002142918] Chr6:30923340 [GRCh38]
Chr6:30891117 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1653G>A (p.Val551=) single nucleotide variant not provided [RCV002161809] Chr6:30921609 [GRCh38]
Chr6:30889386 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1066C>A (p.Arg356=) single nucleotide variant not provided [RCV002178463] Chr6:30918907 [GRCh38]
Chr6:30886684 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.573+13T>C single nucleotide variant not provided [RCV002161601] Chr6:30916060 [GRCh38]
Chr6:30883837 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1074+9C>T single nucleotide variant not provided [RCV002142048] Chr6:30918924 [GRCh38]
Chr6:30886701 [GRCh37]
Chr6:6p21.33
likely benign
NM_020442.6(VARS2):c.1166-5C>A single nucleotide variant not provided [RCV002136815] Chr6:30920084 [GRCh38]
Chr6:30887861 [GRCh37]
Chr6:6p21.33
benign
Single allele duplication not provided [RCV002227787] Chr6:30888982..31005512 [GRCh38]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.503G>A (p.Arg168His) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002251191] Chr6:30915864 [GRCh38]
Chr6:30883641 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.787C>T (p.Arg263Trp) single nucleotide variant not provided [RCV002251609] Chr6:30917138 [GRCh38]
Chr6:30884915 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002288233] Chr6:30921256 [GRCh38]
Chr6:30889033 [GRCh37]
Chr6:6p21.33
likely pathogenic
NM_020442.6(VARS2):c.1955G>A (p.Arg652Gln) single nucleotide variant not provided [RCV002261776] Chr6:30922472 [GRCh38]
Chr6:30890249 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys) single nucleotide variant Combined oxidative phosphorylation defect type 20 [RCV002288401] Chr6:30915863 [GRCh38]
Chr6:30883640 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1496C>G (p.Ala499Gly) single nucleotide variant not provided [RCV002267268] Chr6:30921081 [GRCh38]
Chr6:30888858 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_020442.6(VARS2):c.1487A>G (p.Glu496Gly) single nucleotide variant not provided [RCV002273443] Chr6:30921072 [GRCh38]
Chr6:30888849 [GRCh37]
Chr6:6p21.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21642 AgrOrtholog
COSMIC VARS2 COSMIC
Ensembl Genes ENSG00000137411 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206476 UniProtKB/TrEMBL
  ENSG00000223494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000230985 UniProtKB/TrEMBL
  ENSG00000234032 UniProtKB/TrEMBL
  ENSG00000236178 UniProtKB/TrEMBL
Ensembl Protein ENSP00000316092.5 UniProtKB/Swiss-Prot
  ENSP00000372860.3 UniProtKB/TrEMBL
  ENSP00000373032.3 UniProtKB/TrEMBL
  ENSP00000394190.1 UniProtKB/TrEMBL
  ENSP00000395255.1 UniProtKB/TrEMBL
  ENSP00000396754.2 UniProtKB/TrEMBL
  ENSP00000400867.2 UniProtKB/Swiss-Prot
  ENSP00000401775.1 UniProtKB/TrEMBL
  ENSP00000403749.1 UniProtKB/TrEMBL
  ENSP00000406721.1 UniProtKB/TrEMBL
  ENSP00000407805.2 UniProtKB/TrEMBL
  ENSP00000407946.1 UniProtKB/TrEMBL
  ENSP00000408591.1 UniProtKB/TrEMBL
  ENSP00000414807.1 UniProtKB/TrEMBL
  ENSP00000415560.1 UniProtKB/TrEMBL
  ENSP00000415729.1 UniProtKB/TrEMBL
  ENSP00000415752.1 UniProtKB/TrEMBL
  ENSP00000416390.1 UniProtKB/TrEMBL
  ENSP00000441000.2 UniProtKB/Swiss-Prot
  ENSP00000446839.1 UniProtKB/Swiss-Prot
  ENSP00000447141.1 UniProtKB/TrEMBL
  ENSP00000447179.1 UniProtKB/TrEMBL
  ENSP00000447763.2 UniProtKB/TrEMBL
  ENSP00000448002.2 UniProtKB/TrEMBL
  ENSP00000449382.1 UniProtKB/TrEMBL
  ENSP00000449456.2 UniProtKB/TrEMBL
  ENSP00000449862.1 UniProtKB/TrEMBL
  ENSP00000485818 ENTREZGENE
  ENSP00000485818.1 UniProtKB/Swiss-Prot
  ENSP00000500615.1 UniProtKB/TrEMBL
  ENSP00000502585 ENTREZGENE
  ENSP00000502585.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321897.9 UniProtKB/Swiss-Prot
  ENST00000383369.7 UniProtKB/TrEMBL
  ENST00000383540.7 UniProtKB/TrEMBL
  ENST00000411697.5 UniProtKB/TrEMBL
  ENST00000414570.5 UniProtKB/TrEMBL
  ENST00000415079.6 UniProtKB/Swiss-Prot
  ENST00000416187.5 UniProtKB/TrEMBL
  ENST00000421263.1 UniProtKB/TrEMBL
  ENST00000425563.5 UniProtKB/TrEMBL
  ENST00000428017.5 UniProtKB/TrEMBL
  ENST00000428577.6 UniProtKB/TrEMBL
  ENST00000431578.5 UniProtKB/TrEMBL
  ENST00000433908.5 UniProtKB/TrEMBL
  ENST00000434089.5 UniProtKB/TrEMBL
  ENST00000443384.5 UniProtKB/TrEMBL
  ENST00000446577.5 UniProtKB/TrEMBL
  ENST00000450090.6 UniProtKB/TrEMBL
  ENST00000452966.5 UniProtKB/TrEMBL
  ENST00000541562.6 UniProtKB/Swiss-Prot
  ENST00000546854.5 UniProtKB/Swiss-Prot
  ENST00000548165.2 UniProtKB/TrEMBL
  ENST00000548842.5 UniProtKB/TrEMBL
  ENST00000549458.5 UniProtKB/TrEMBL
  ENST00000549900.2 UniProtKB/TrEMBL
  ENST00000551709.2 UniProtKB/TrEMBL
  ENST00000552560.5 UniProtKB/TrEMBL
  ENST00000553245.5 UniProtKB/TrEMBL
  ENST00000625423 ENTREZGENE
  ENST00000625423.2 UniProtKB/Swiss-Prot
  ENST00000672801.1 UniProtKB/TrEMBL
  ENST00000676266 ENTREZGENE
  ENST00000676266.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137411 GTEx
  ENSG00000206476 GTEx
  ENSG00000223494 GTEx
  ENSG00000230985 GTEx
  ENSG00000234032 GTEx
  ENSG00000236178 GTEx
HGNC ID HGNC:21642 ENTREZGENE
Human Proteome Map VARS2 Human Proteome Map
InterPro aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_Ia UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anticodon_Ia_Val UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M/V/L/I-tRNA-synth_anticd-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNAsynth_Ia_anticodon-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Val/Leu/Ile-tRNA-synth_edit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Valyl-tRNA_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57176 ENTREZGENE
OMIM 612802 OMIM
  615917 OMIM
PANTHER PTHR11946 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Anticodon_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164742816 PharmGKB
PRINTS TRNASYNTHVAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47323 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50677 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs valS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTG1_HUMAN UniProtKB/TrEMBL
  A0A0G2JIA5_HUMAN UniProtKB/TrEMBL
  A0A0G2JL52_HUMAN UniProtKB/TrEMBL
  A0A140T8Y0_HUMAN UniProtKB/TrEMBL
  A0A140TA35_HUMAN UniProtKB/TrEMBL
  A0A140TA36_HUMAN UniProtKB/TrEMBL
  A0A140TA40_HUMAN UniProtKB/TrEMBL
  A0A140TA45_HUMAN UniProtKB/TrEMBL
  A0A1U9X9B3 ENTREZGENE, UniProtKB/TrEMBL
  A2ABL6_HUMAN UniProtKB/TrEMBL
  B4DG77 ENTREZGENE, UniProtKB/TrEMBL
  B4E0K6 ENTREZGENE, UniProtKB/TrEMBL
  B7ZCJ6_HUMAN UniProtKB/TrEMBL
  Q5ST30 ENTREZGENE
  Q9UFH7 ENTREZGENE
  SYVM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A1U9X990 UniProtKB/TrEMBL
  A0A1U9X992 UniProtKB/TrEMBL
  A0A1U9X994 UniProtKB/TrEMBL
  A0A1U9X9A8 UniProtKB/TrEMBL
  A2ABL7 UniProtKB/Swiss-Prot
  B4DET4 UniProtKB/Swiss-Prot
  B4E3P5 UniProtKB/Swiss-Prot
  F5GXJ0 UniProtKB/Swiss-Prot
  F5H323 UniProtKB/Swiss-Prot
  Q2M2A0 UniProtKB/Swiss-Prot
  Q59FI1 UniProtKB/Swiss-Prot
  Q5SQ96 UniProtKB/Swiss-Prot
  Q5SS98 UniProtKB/Swiss-Prot
  Q6DKJ5 UniProtKB/Swiss-Prot
  Q6ZV24 UniProtKB/Swiss-Prot
  Q96GN2 UniProtKB/Swiss-Prot
  Q96H77 UniProtKB/Swiss-Prot
  Q96Q02 UniProtKB/Swiss-Prot
  Q9H6R2 UniProtKB/Swiss-Prot
  Q9UFH7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-30 VARS2  valyl-tRNA synthetase 2, mitochondrial    valyl-tRNA synthetase 2, mitochondrial (putative)  Symbol and/or name change 5135510 APPROVED