GLYCTK (glycerate kinase) - Rat Genome Database

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Gene: GLYCTK (glycerate kinase) Homo sapiens
Analyze
Symbol: GLYCTK
Name: glycerate kinase
RGD ID: 1604750
HGNC Page HGNC:24247
Description: Enables glycerate kinase activity. Predicted to be involved in fructose catabolic process. Located in Golgi apparatus and cytosol. Implicated in D-glyceric aciduria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CG9886-like; HBeAg binding protein 4; HBeAg-binding protein 2; HBeAg-binding protein 4; HBeAgBP4A; HBEBP2; HBEBP4
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
GRCh38352,287,828 - 52,295,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,287,089 - 52,295,257 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,321,844 - 52,329,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,296,912 - 52,302,532 (+)NCBINCBI36Build 36hg18NCBI36
Celera352,301,159 - 52,308,595 (+)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef352,384,478 - 52,391,914 (+)NCBIHuRef
CHM1_1352,274,371 - 52,281,807 (+)NCBICHM1_1
T2T-CHM13v2.0352,320,727 - 52,349,445 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,ISO,TAS)
Golgi apparatus  (IDA)
mitochondrion  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating enzyme concentration or activity  (IAGP)
Aminoaciduria  (IAGP)
Appendicular spasticity  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradycardia  (IAGP)
Brain atrophy  (IAGP)
Brisk reflexes  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Deeply set eye  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Elevated circulating D-glyceric concentration  (IAGP)
Elevated CSF D-glyceric acid concentration  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Focal clonic seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hyperglycinemia  (IAGP)
Hyperglycinuria  (IAGP)
Hyperreflexia  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Increased circulating free fatty acid level  (IAGP)
Increased CSF glycine concentration  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Loss of consciousness  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Myoclonus  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Nonketotic hyperglycinemia  (IAGP)
Opisthotonus  (IAGP)
Optic nerve hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Profound global developmental delay  (IAGP)
Progressive encephalopathy  (IAGP)
Progressive microcephaly  (IAGP)
Reduced hepatic D-glycerate kinase activity  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Single transverse palmar crease  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tongue thrusting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2537226   PMID:2551543   PMID:8889549   PMID:12477932   PMID:16189514   PMID:16344560   PMID:16753811   PMID:18029348   PMID:19060904   PMID:20800603   PMID:20949620   PMID:21873635  
PMID:21926972   PMID:21988832   PMID:23974872   PMID:25416956   PMID:31837836   PMID:32296183   PMID:32393512  


Genomics

Comparative Map Data
GLYCTK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,287,828 - 52,295,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,287,089 - 52,295,257 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,321,844 - 52,329,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,296,912 - 52,302,532 (+)NCBINCBI36Build 36hg18NCBI36
Celera352,301,159 - 52,308,595 (+)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef352,384,478 - 52,391,914 (+)NCBIHuRef
CHM1_1352,274,371 - 52,281,807 (+)NCBICHM1_1
T2T-CHM13v2.0352,320,727 - 52,349,445 (+)NCBIT2T-CHM13v2.0
Glyctk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399106,030,058 - 106,037,353 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9106,030,056 - 106,035,337 (-)EnsemblGRCm39 Ensembl
GRCm389106,152,859 - 106,160,158 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9106,152,857 - 106,158,138 (-)EnsemblGRCm38mm10GRCm38
MGSCv379106,055,191 - 106,060,469 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369106,010,961 - 106,016,239 (-)NCBIMGSCv36mm8
Celera9105,776,846 - 105,782,154 (-)NCBICelera
Cytogenetic Map9F1NCBI
cM Map957.46NCBI
Glyctk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88115,676,071 - 115,681,403 (-)NCBIGRCr8
mRatBN7.28106,795,461 - 106,802,675 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8106,797,343 - 106,802,397 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8112,421,933 - 112,426,948 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08110,621,106 - 110,626,120 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08108,463,912 - 108,468,926 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08114,846,210 - 114,853,374 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8114,848,084 - 114,853,103 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08114,211,573 - 114,218,732 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera8106,120,103 - 106,125,121 (-)NCBICelera
Cytogenetic Map8q32NCBI
Glyctk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555323,936,160 - 3,942,868 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555323,933,964 - 3,939,858 (+)NCBIChiLan1.0ChiLan1.0
GLYCTK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2252,282,866 - 52,290,724 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1352,287,680 - 52,295,495 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0352,230,128 - 52,237,561 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,459,271 - 53,466,702 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,458,563 - 53,466,702 (+)Ensemblpanpan1.1panPan2
GLYCTK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,462,651 - 37,495,581 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2037,462,659 - 37,465,807 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,442,602 - 37,477,128 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02037,811,192 - 37,845,947 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,788,578 - 37,845,938 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12037,175,116 - 37,209,637 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,583,786 - 37,618,386 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02037,868,469 - 37,902,996 (-)NCBIUU_Cfam_GSD_1.0
Glyctk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560266,866,696 - 66,872,727 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365293,628,822 - 3,635,236 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365293,627,194 - 3,635,568 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLYCTK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1334,433,399 - 34,440,264 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11334,433,403 - 34,440,037 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21337,565,182 - 37,572,167 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLYCTK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,648,499 - 13,653,813 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,651,024 - 13,653,801 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,247,974 - 153,253,449 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Glyctk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247306,089,167 - 6,099,660 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247306,088,702 - 6,095,621 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLYCTK
150 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GLYCTK, 1-BP DEL, 1448T deletion D-Glyceric aciduria [RCV000023820] Chr3:3p21 pathogenic|likely benign
GLYCTK, 1-BP DEL, 1558C deletion D-Glyceric aciduria [RCV000023822] Chr3:3p21 pathogenic
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) single nucleotide variant D-Glyceric aciduria [RCV000023821]|not provided [RCV001852029] Chr3:52293032 [GRCh38]
Chr3:52327048 [GRCh37]
Chr3:3p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_145262.4(GLYCTK):c.1448del (p.Phe483fs) deletion D-Glyceric aciduria [RCV000077847] Chr3:52293001 [GRCh38]
Chr3:52327017 [GRCh37]
Chr3:3p21.2		 pathogenic|not provided
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs) deletion D-Glyceric aciduria [RCV000077848] Chr3:52293111 [GRCh38]
Chr3:52327127 [GRCh37]
Chr3:3p21.2		 pathogenic|not provided
NM_145262.4(GLYCTK):c.1181C>T (p.Thr394Ile) single nucleotide variant not provided [RCV000514109] Chr3:52292735 [GRCh38]
Chr3:52326751 [GRCh37]
Chr3:3p21.2		 benign|likely benign
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser) single nucleotide variant D-Glyceric aciduria [RCV001250085]|not provided [RCV001529483]|not specified [RCV000238629] Chr3:52293014 [GRCh38]
Chr3:52327030 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) deletion D-Glyceric aciduria [RCV000626192] Chr3:52290402..52290404 [GRCh38]
Chr3:52324418..52324420 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.705+3A>G single nucleotide variant not provided [RCV000514795] Chr3:52291925 [GRCh38]
Chr3:52325941 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_145262.4(GLYCTK):c.1178A>G (p.Glu393Gly) single nucleotide variant Inborn genetic diseases [RCV003288048] Chr3:52292732 [GRCh38]
Chr3:52326748 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.830G>T (p.Arg277Leu) single nucleotide variant Inborn genetic diseases [RCV003305205] Chr3:52292384 [GRCh38]
Chr3:52326400 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) single nucleotide variant D-Glyceric aciduria [RCV000626172]|not provided [RCV000906954] Chr3:52291039 [GRCh38]
Chr3:52325055 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_145262.4(GLYCTK):c.229C>T (p.Leu77=) single nucleotide variant not provided [RCV000917337] Chr3:52290571 [GRCh38]
Chr3:52324587 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1307G>T (p.Arg436Met) single nucleotide variant Inborn genetic diseases [RCV003245995] Chr3:52292861 [GRCh38]
Chr3:52326877 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.453G>A (p.Ala151=) single nucleotide variant not provided [RCV000902973] Chr3:52291035 [GRCh38]
Chr3:52325051 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.79C>T (p.Arg27Cys) single nucleotide variant not provided [RCV000901783] Chr3:52290421 [GRCh38]
Chr3:52324437 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.870G>A (p.Arg290=) single nucleotide variant not provided [RCV000920250] Chr3:52292424 [GRCh38]
Chr3:52326440 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.369C>G (p.Ala123=) single nucleotide variant not provided [RCV000916046] Chr3:52290711 [GRCh38]
Chr3:52324727 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.255C>A (p.Gly85=) single nucleotide variant not provided [RCV000922593] Chr3:52290597 [GRCh38]
Chr3:52324613 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_145262.4(GLYCTK):c.1468C>T (p.His490Tyr) single nucleotide variant not provided [RCV000974981] Chr3:52293022 [GRCh38]
Chr3:52327038 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile) single nucleotide variant D-Glyceric aciduria [RCV001333562]|GLYCTK-related condition [RCV003918449]|not provided [RCV000970922] Chr3:52290966 [GRCh38]
Chr3:52324982 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_145262.4(GLYCTK):c.940C>T (p.Leu314=) single nucleotide variant not provided [RCV000924469] Chr3:52292494 [GRCh38]
Chr3:52326510 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.843A>G (p.Pro281=) single nucleotide variant GLYCTK-related condition [RCV003926249]|not provided [RCV000964920] Chr3:52292397 [GRCh38]
Chr3:52326413 [GRCh37]
Chr3:3p21.2		 benign
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 copy number loss not provided [RCV000848455] Chr3:52195134..52869037 [GRCh37]
Chr3:3p21.2-21.1		 pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu) single nucleotide variant D-Glyceric aciduria [RCV001195917]|not provided [RCV001859181] Chr3:52292867 [GRCh38]
Chr3:52326883 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr) single nucleotide variant D-Glyceric aciduria [RCV001195918] Chr3:52290454 [GRCh38]
Chr3:52324470 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.349C>T (p.Arg117Cys) single nucleotide variant not provided [RCV003106367] Chr3:52290691 [GRCh38]
Chr3:52324707 [GRCh37]
Chr3:3p21.2		 uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_145262.4(GLYCTK):c.194G>A (p.Gly65Asp) single nucleotide variant Inborn genetic diseases [RCV003275300] Chr3:52290536 [GRCh38]
Chr3:52324552 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.21C>T (p.Val7=) single nucleotide variant not provided [RCV000907100] Chr3:52290363 [GRCh38]
Chr3:52324379 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.762T>C (p.Ser254=) single nucleotide variant Inborn genetic diseases [RCV003346215]|not provided [RCV000930982] Chr3:52292316 [GRCh38]
Chr3:52326332 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1566T>C (p.Pro522=) single nucleotide variant not provided [RCV000909362] Chr3:52293120 [GRCh38]
Chr3:52327136 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.153G>A (p.Pro51=) single nucleotide variant GLYCTK-related condition [RCV003932975]|not provided [RCV000910393] Chr3:52290495 [GRCh38]
Chr3:52324511 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1251G>A (p.Ser417=) single nucleotide variant GLYCTK-related condition [RCV003920765]|not provided [RCV000891473] Chr3:52292805 [GRCh38]
Chr3:52326821 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.239dup (p.Asn80fs) duplication not provided [RCV001550878] Chr3:52290577..52290578 [GRCh38]
Chr3:52324593..52324594 [GRCh37]
Chr3:3p21.2		 likely pathogenic
NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser) single nucleotide variant D-Glyceric aciduria [RCV001250063] Chr3:52290646 [GRCh38]
Chr3:52324662 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 copy number gain not provided [RCV001259685] Chr3:51975459..52561678 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_145262.4(GLYCTK):c.788A>G (p.Asn263Ser) single nucleotide variant not provided [RCV002002170] Chr3:52292342 [GRCh38]
Chr3:52326358 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser) single nucleotide variant D-Glyceric aciduria [RCV001333563] Chr3:52291767 [GRCh38]
Chr3:52325783 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1049T>C (p.Leu350Pro) single nucleotide variant D-Glyceric aciduria [RCV001332954] Chr3:52292603 [GRCh38]
Chr3:52326619 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu) single nucleotide variant D-Glyceric aciduria [RCV001333561] Chr3:52292590 [GRCh38]
Chr3:52326606 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.377+20T>C single nucleotide variant not provided [RCV003852748] Chr3:52290739 [GRCh38]
Chr3:52324755 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu) single nucleotide variant D-Glyceric aciduria [RCV001332955]|not provided [RCV001859304] Chr3:52292345 [GRCh38]
Chr3:52326361 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.508C>G (p.Leu170Val) single nucleotide variant not provided [RCV001519698] Chr3:52291090 [GRCh38]
Chr3:52325106 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.441G>C (p.Pro147=) single nucleotide variant not provided [RCV001469252] Chr3:52291023 [GRCh38]
Chr3:52325039 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.441G>A (p.Pro147=) single nucleotide variant not provided [RCV001515312] Chr3:52291023 [GRCh38]
Chr3:52325039 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.530-4A>G single nucleotide variant not provided [RCV001515313] Chr3:52291743 [GRCh38]
Chr3:52325759 [GRCh37]
Chr3:3p21.2		 benign
NM_145262.4(GLYCTK):c.1250C>T (p.Ser417Leu) single nucleotide variant not provided [RCV003104859] Chr3:52292804 [GRCh38]
Chr3:52326820 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.844C>T (p.Arg282Cys) single nucleotide variant not provided [RCV001752764] Chr3:52292398 [GRCh38]
Chr3:52326414 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1340dup (p.Leu447fs) duplication not provided [RCV001779741] Chr3:52292889..52292890 [GRCh38]
Chr3:52326905..52326906 [GRCh37]
Chr3:3p21.2		 likely pathogenic
NM_145262.4(GLYCTK):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV001915350] Chr3:52290695 [GRCh38]
Chr3:52324711 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.689C>T (p.Ala230Val) single nucleotide variant not provided [RCV001873881] Chr3:52291906 [GRCh38]
Chr3:52325922 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1294G>A (p.Ala432Thr) single nucleotide variant not provided [RCV002045002] Chr3:52292848 [GRCh38]
Chr3:52326864 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.64C>T (p.Arg22Trp) single nucleotide variant not provided [RCV001889151] Chr3:52290406 [GRCh38]
Chr3:52324422 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.678del (p.Leu227fs) deletion not provided [RCV002002784] Chr3:52291890 [GRCh38]
Chr3:52325906 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.823G>A (p.Gly275Ser) single nucleotide variant not provided [RCV001934997] Chr3:52292377 [GRCh38]
Chr3:52326393 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.767C>T (p.Pro256Leu) single nucleotide variant not provided [RCV001881210] Chr3:52292321 [GRCh38]
Chr3:52326337 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.230T>A (p.Leu77Gln) single nucleotide variant not provided [RCV001920189] Chr3:52290572 [GRCh38]
Chr3:52324588 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1157T>G (p.Leu386Arg) single nucleotide variant not provided [RCV001990773] Chr3:52292711 [GRCh38]
Chr3:52326727 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.576G>A (p.Leu192=) single nucleotide variant not provided [RCV001975741] Chr3:52291793 [GRCh38]
Chr3:52325809 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.38G>A (p.Arg13Gln) single nucleotide variant Inborn genetic diseases [RCV002555672]|not provided [RCV001915896] Chr3:52290380 [GRCh38]
Chr3:52324396 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.872C>T (p.Ala291Val) single nucleotide variant not provided [RCV002015048] Chr3:52292426 [GRCh38]
Chr3:52326442 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.806A>G (p.His269Arg) single nucleotide variant not provided [RCV001923133] Chr3:52292360 [GRCh38]
Chr3:52326376 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1153_1154dup (p.Asp385fs) duplication not provided [RCV001884036] Chr3:52292705..52292706 [GRCh38]
Chr3:52326721..52326722 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1286G>A (p.Arg429His) single nucleotide variant not provided [RCV001937555] Chr3:52292840 [GRCh38]
Chr3:52326856 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1183A>G (p.Met395Val) single nucleotide variant not provided [RCV001880768] Chr3:52292737 [GRCh38]
Chr3:52326753 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.578A>G (p.Glu193Gly) single nucleotide variant not provided [RCV002013783] Chr3:52291795 [GRCh38]
Chr3:52325811 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.529+10C>T single nucleotide variant GLYCTK-related condition [RCV003968860]|not provided [RCV002091192] Chr3:52291121 [GRCh38]
Chr3:52325137 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1374A>G (p.Thr458=) single nucleotide variant not provided [RCV002109743] Chr3:52292928 [GRCh38]
Chr3:52326944 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.177A>G (p.Leu59=) single nucleotide variant not provided [RCV002210090] Chr3:52290519 [GRCh38]
Chr3:52324535 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1053G>A (p.Leu351=) single nucleotide variant GLYCTK-related condition [RCV003913692]|not provided [RCV002113199] Chr3:52292607 [GRCh38]
Chr3:52326623 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.57C>T (p.Leu19=) single nucleotide variant not provided [RCV002151268] Chr3:52290399 [GRCh38]
Chr3:52324415 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.945G>A (p.Ala315=) single nucleotide variant not provided [RCV002135702] Chr3:52292499 [GRCh38]
Chr3:52326515 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.80G>A (p.Arg27His) single nucleotide variant not provided [RCV002120046] Chr3:52290422 [GRCh38]
Chr3:52324438 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.530-14C>A single nucleotide variant not provided [RCV002142337] Chr3:52291733 [GRCh38]
Chr3:52325749 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.894A>G (p.Pro298=) single nucleotide variant not provided [RCV002199887] Chr3:52292448 [GRCh38]
Chr3:52326464 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.403C>T (p.Arg135Cys) single nucleotide variant not provided [RCV002200451] Chr3:52290985 [GRCh38]
Chr3:52325001 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.71C>T (p.Ser24Leu) single nucleotide variant not provided [RCV002103823] Chr3:52290413 [GRCh38]
Chr3:52324429 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.529+13A>G single nucleotide variant not provided [RCV002177969] Chr3:52291124 [GRCh38]
Chr3:52325140 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.516C>T (p.Leu172=) single nucleotide variant not provided [RCV003117323] Chr3:52291098 [GRCh38]
Chr3:52325114 [GRCh37]
Chr3:3p21.2		 likely benign
NC_000003.11:g.(?_52109903)_(53164416_?)del deletion RFT1-congenital disorder of glycosylation [RCV003122979] Chr3:52109903..53164416 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_145262.4(GLYCTK):c.1057del (p.His353fs) deletion D-Glyceric aciduria [RCV002266165]|not provided [RCV003096006] Chr3:52292609 [GRCh38]
Chr3:52326625 [GRCh37]
Chr3:3p21.2		 likely pathogenic|uncertain significance
NM_145262.4(GLYCTK):c.1514C>G (p.Thr505Arg) single nucleotide variant not provided [RCV002297683] Chr3:52293068 [GRCh38]
Chr3:52327084 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1344C>A (p.Ser448Arg) single nucleotide variant not provided [RCV002301510] Chr3:52292898 [GRCh38]
Chr3:52326914 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1319G>A (p.Gly440Glu) single nucleotide variant not provided [RCV002295584] Chr3:52292873 [GRCh38]
Chr3:52326889 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter) single nucleotide variant D-Glyceric aciduria [RCV002510312]|not provided [RCV002569433] Chr3:52290379 [GRCh38]
Chr3:52324395 [GRCh37]
Chr3:3p21.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_145262.4(GLYCTK):c.211C>T (p.Arg71Trp) single nucleotide variant Inborn genetic diseases [RCV002749545] Chr3:52290553 [GRCh38]
Chr3:52324569 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.274G>T (p.Gly92Cys) single nucleotide variant Inborn genetic diseases [RCV002774481] Chr3:52290616 [GRCh38]
Chr3:52324632 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.897C>T (p.His299=) single nucleotide variant not provided [RCV002863213] Chr3:52292451 [GRCh38]
Chr3:52326467 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.172G>C (p.Ala58Pro) single nucleotide variant Inborn genetic diseases [RCV002906446] Chr3:52290514 [GRCh38]
Chr3:52324530 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.848C>T (p.Ser283Phe) single nucleotide variant Inborn genetic diseases [RCV002900562]|not provided [RCV002908750] Chr3:52292402 [GRCh38]
Chr3:52326418 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.821A>G (p.Tyr274Cys) single nucleotide variant Inborn genetic diseases [RCV002947720]|not provided [RCV002938788] Chr3:52292375 [GRCh38]
Chr3:52326391 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1397C>T (p.Thr466Ile) single nucleotide variant GLYCTK-related condition [RCV003936462]|not provided [RCV002975418] Chr3:52292951 [GRCh38]
Chr3:52326967 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_145262.4(GLYCTK):c.1377G>A (p.Glu459=) single nucleotide variant not provided [RCV002838577] Chr3:52292931 [GRCh38]
Chr3:52326947 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV002975115] Chr3:52290667 [GRCh38]
Chr3:52324683 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.761G>C (p.Ser254Thr) single nucleotide variant Inborn genetic diseases [RCV002860708] Chr3:52292315 [GRCh38]
Chr3:52326331 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1354G>A (p.Asp452Asn) single nucleotide variant not provided [RCV003017214] Chr3:52292908 [GRCh38]
Chr3:52326924 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.977dup (p.Tyr328fs) duplication not provided [RCV003079354] Chr3:52292530..52292531 [GRCh38]
Chr3:52326546..52326547 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.802C>G (p.Leu268Val) single nucleotide variant Inborn genetic diseases [RCV002762187] Chr3:52292356 [GRCh38]
Chr3:52326372 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.378-8C>G single nucleotide variant not provided [RCV002914278] Chr3:52290952 [GRCh38]
Chr3:52324968 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1323G>A (p.Pro441=) single nucleotide variant not provided [RCV002786097] Chr3:52292877 [GRCh38]
Chr3:52326893 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.830G>A (p.Arg277His) single nucleotide variant not provided [RCV002928026] Chr3:52292384 [GRCh38]
Chr3:52326400 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.378-3C>T single nucleotide variant not provided [RCV002638249] Chr3:52290957 [GRCh38]
Chr3:52324973 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1408G>A (p.Ala470Thr) single nucleotide variant Inborn genetic diseases [RCV002574834]|not provided [RCV002571786] Chr3:52292962 [GRCh38]
Chr3:52326978 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.944C>T (p.Ala315Val) single nucleotide variant not provided [RCV002637151] Chr3:52292498 [GRCh38]
Chr3:52326514 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1241T>A (p.Leu414Gln) single nucleotide variant not provided [RCV002591035] Chr3:52292795 [GRCh38]
Chr3:52326811 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1285C>T (p.Arg429Cys) single nucleotide variant Inborn genetic diseases [RCV002869678] Chr3:52292839 [GRCh38]
Chr3:52326855 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.642C>T (p.Thr214=) single nucleotide variant not provided [RCV002889207] Chr3:52291859 [GRCh38]
Chr3:52325875 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1059T>C (p.His353=) single nucleotide variant not provided [RCV002761433] Chr3:52292613 [GRCh38]
Chr3:52326629 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.152C>T (p.Pro51Leu) single nucleotide variant not provided [RCV002622798] Chr3:52290494 [GRCh38]
Chr3:52324510 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.365G>A (p.Arg122His) single nucleotide variant not provided [RCV002949316] Chr3:52290707 [GRCh38]
Chr3:52324723 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.445C>T (p.Arg149Cys) single nucleotide variant Inborn genetic diseases [RCV003009188]|not provided [RCV003002740] Chr3:52291027 [GRCh38]
Chr3:52325043 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1055C>G (p.Ala352Gly) single nucleotide variant not provided [RCV002570885] Chr3:52292609 [GRCh38]
Chr3:52326625 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.874G>A (p.Asp292Asn) single nucleotide variant not provided [RCV003085614] Chr3:52292428 [GRCh38]
Chr3:52326444 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1314G>A (p.Pro438=) single nucleotide variant not provided [RCV002626975] Chr3:52292868 [GRCh38]
Chr3:52326884 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.130A>G (p.Ser44Gly) single nucleotide variant not provided [RCV002711677] Chr3:52290472 [GRCh38]
Chr3:52324488 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.888T>C (p.His296=) single nucleotide variant not provided [RCV002643913] Chr3:52292442 [GRCh38]
Chr3:52326458 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.715C>T (p.Leu239Phe) single nucleotide variant not provided [RCV002594781] Chr3:52292269 [GRCh38]
Chr3:52326285 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.757G>A (p.Ala253Thr) single nucleotide variant not provided [RCV002643799] Chr3:52292311 [GRCh38]
Chr3:52326327 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.52C>T (p.Pro18Ser) single nucleotide variant not provided [RCV002711246] Chr3:52290394 [GRCh38]
Chr3:52324410 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.898_899dup (p.Cys301fs) microsatellite not provided [RCV003006415] Chr3:52292446..52292447 [GRCh38]
Chr3:52326462..52326463 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1277T>A (p.Leu426Gln) single nucleotide variant not provided [RCV003084254] Chr3:52292831 [GRCh38]
Chr3:52326847 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.28C>G (p.Arg10Gly) single nucleotide variant not provided [RCV002967385] Chr3:52290370 [GRCh38]
Chr3:52324386 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1253G>T (p.Gly418Val) single nucleotide variant Inborn genetic diseases [RCV002673766] Chr3:52292807 [GRCh38]
Chr3:52326823 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1008C>T (p.Ala336=) single nucleotide variant not provided [RCV003026882] Chr3:52292562 [GRCh38]
Chr3:52326578 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1539G>A (p.Met513Ile) single nucleotide variant not provided [RCV003043908] Chr3:52293093 [GRCh38]
Chr3:52327109 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1568G>A (p.Arg523Gln) single nucleotide variant not provided [RCV003011296] Chr3:52293122 [GRCh38]
Chr3:52327138 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1518G>A (p.Gly506=) single nucleotide variant not provided [RCV002832889] Chr3:52293072 [GRCh38]
Chr3:52327088 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.817C>T (p.Arg273Cys) single nucleotide variant Inborn genetic diseases [RCV003068352]|not provided [RCV003062945] Chr3:52292371 [GRCh38]
Chr3:52326387 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.169C>T (p.Arg57Trp) single nucleotide variant Inborn genetic diseases [RCV002748527] Chr3:52290511 [GRCh38]
Chr3:52324527 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1163T>C (p.Leu388Pro) single nucleotide variant Inborn genetic diseases [RCV002936382] Chr3:52292717 [GRCh38]
Chr3:52326733 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.798T>C (p.Asp266=) single nucleotide variant not provided [RCV002599702] Chr3:52292352 [GRCh38]
Chr3:52326368 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1386G>A (p.Gly462=) single nucleotide variant not provided [RCV002807251] Chr3:52292940 [GRCh38]
Chr3:52326956 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.673G>T (p.Gly225Trp) single nucleotide variant not provided [RCV002630280] Chr3:52291890 [GRCh38]
Chr3:52325906 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.333C>T (p.Ser111=) single nucleotide variant not provided [RCV002900331] Chr3:52290675 [GRCh38]
Chr3:52324691 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.729T>C (p.Asp243=) single nucleotide variant not provided [RCV002716854] Chr3:52292283 [GRCh38]
Chr3:52326299 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1310G>C (p.Trp437Ser) single nucleotide variant not provided [RCV002721077] Chr3:52292864 [GRCh38]
Chr3:52326880 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.691G>A (p.Ala231Thr) single nucleotide variant not provided [RCV002834809] Chr3:52291908 [GRCh38]
Chr3:52325924 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1286G>T (p.Arg429Leu) single nucleotide variant not provided [RCV002653735] Chr3:52292840 [GRCh38]
Chr3:52326856 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1544C>A (p.Thr515Asn) single nucleotide variant not provided [RCV002582579] Chr3:52293098 [GRCh38]
Chr3:52327114 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.529+20C>T single nucleotide variant not provided [RCV002604580] Chr3:52291131 [GRCh38]
Chr3:52325147 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.822C>T (p.Tyr274=) single nucleotide variant not provided [RCV002633376] Chr3:52292376 [GRCh38]
Chr3:52326392 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV002609432] Chr3:52290559 [GRCh38]
Chr3:52324575 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.969C>T (p.Ala323=) single nucleotide variant not provided [RCV002586342] Chr3:52292523 [GRCh38]
Chr3:52326539 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.530-8C>G single nucleotide variant not provided [RCV002658179] Chr3:52291739 [GRCh38]
Chr3:52325755 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.501T>A (p.Ala167=) single nucleotide variant not provided [RCV002589289] Chr3:52291083 [GRCh38]
Chr3:52325099 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1265G>A (p.Arg422Gln) single nucleotide variant GLYCTK-related condition [RCV003393150] Chr3:52292819 [GRCh38]
Chr3:52326835 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.446G>A (p.Arg149His) single nucleotide variant Inborn genetic diseases [RCV003189913] Chr3:52291028 [GRCh38]
Chr3:52325044 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1469A>T (p.His490Leu) single nucleotide variant Inborn genetic diseases [RCV003199535] Chr3:52293023 [GRCh38]
Chr3:52327039 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr) single nucleotide variant D-Glyceric aciduria [RCV003135398]|Inborn genetic diseases [RCV003250845] Chr3:52292686 [GRCh38]
Chr3:52326702 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr) single nucleotide variant D-Glyceric aciduria [RCV003142560] Chr3:52292521 [GRCh38]
Chr3:52326537 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1124A>G (p.His375Arg) single nucleotide variant Inborn genetic diseases [RCV003213038] Chr3:52292678 [GRCh38]
Chr3:52326694 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.646C>T (p.Arg216Trp) single nucleotide variant Inborn genetic diseases [RCV003342340] Chr3:52291863 [GRCh38]
Chr3:52325879 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1433T>C (p.Leu478Pro) single nucleotide variant Inborn genetic diseases [RCV003381500] Chr3:52292987 [GRCh38]
Chr3:52327003 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.515T>C (p.Leu172Pro) single nucleotide variant GLYCTK-related condition [RCV003421145] Chr3:52291097 [GRCh38]
Chr3:52325113 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1464C>T (p.Asp488=) single nucleotide variant not provided [RCV003433618] Chr3:52293018 [GRCh38]
Chr3:52327034 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1353C>T (p.Thr451=) single nucleotide variant not provided [RCV003433617] Chr3:52292907 [GRCh38]
Chr3:52326923 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.962G>A (p.Arg321Gln) single nucleotide variant GLYCTK-related condition [RCV003421080] Chr3:52292516 [GRCh38]
Chr3:52326532 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.725_731del (p.Ser242fs) deletion not provided [RCV003433616] Chr3:52292276..52292282 [GRCh38]
Chr3:52326292..52326298 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_145262.4(GLYCTK):c.186C>T (p.Asp62=) single nucleotide variant not provided [RCV003433615] Chr3:52290528 [GRCh38]
Chr3:52324544 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1567C>T (p.Arg523Trp) single nucleotide variant GLYCTK-related condition [RCV003427768] Chr3:52293121 [GRCh38]
Chr3:52327137 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_145262.4(GLYCTK):c.1315C>T (p.Leu439=) single nucleotide variant not provided [RCV003831792] Chr3:52292869 [GRCh38]
Chr3:52326885 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.540A>C (p.Ser180=) single nucleotide variant not provided [RCV003840059] Chr3:52291757 [GRCh38]
Chr3:52325773 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1002T>C (p.Ser334=) single nucleotide variant not provided [RCV003580891] Chr3:52292556 [GRCh38]
Chr3:52326572 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_145262.4(GLYCTK):c.1044C>T (p.Tyr348=) single nucleotide variant not provided [RCV003848369] Chr3:52292598 [GRCh38]
Chr3:52326614 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1176G>A (p.Leu392=) single nucleotide variant not provided [RCV003555439] Chr3:52292730 [GRCh38]
Chr3:52326746 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.324C>T (p.Gly108=) single nucleotide variant not provided [RCV003818592] Chr3:52290666 [GRCh38]
Chr3:52324682 [GRCh37]
Chr3:3p21.2		 likely benign
NM_145262.4(GLYCTK):c.1491G>A (p.Gln497=) single nucleotide variant GLYCTK-related condition [RCV003901807] Chr3:52293045 [GRCh38]
Chr3:52327061 [GRCh37]
Chr3:3p21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6005
Count of miRNA genes:1042
Interacting mature miRNAs:1300
Transcripts:ENST00000305690, ENST00000354773, ENST00000436784, ENST00000461183, ENST00000471180, ENST00000473032, ENST00000473583, ENST00000477382, ENST00000486393, ENST00000489173
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
WI-17518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,327,342 - 52,327,468UniSTSGRCh37
Build 36352,302,382 - 52,302,508RGDNCBI36
Celera352,306,665 - 52,306,791RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,389,984 - 52,390,110UniSTS
GeneMap99-GB4 RH Map3161.8UniSTS
Whitehead-RH Map3212.9UniSTS
NCBI RH Map3491.2UniSTS
RH78133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,327,219 - 52,327,338UniSTSGRCh37
Build 36352,302,259 - 52,302,378RGDNCBI36
Celera352,306,542 - 52,306,661RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,389,861 - 52,389,980UniSTS
GeneMap99-GB4 RH Map3162.3UniSTS
NCBI RH Map3492.0UniSTS


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 753 515 964 444 991 442 597 34 219 188 467 710 6 778 154 1
Low 1686 2475 762 180 958 23 3757 2159 3475 231 992 903 169 1 426 2632 6 1
Below cutoff 1 2 2 4 40 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_245095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA100208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI380271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY134474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY172690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY295075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM555864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA586797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ352863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305690   ⟹   ENSP00000301965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,820 - 52,293,005 (+)Ensembl
RefSeq Acc Id: ENST00000436784   ⟹   ENSP00000389175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,828 - 52,295,257 (+)Ensembl
RefSeq Acc Id: ENST00000461183   ⟹   ENSP00000417264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,089 - 52,293,166 (+)Ensembl
RefSeq Acc Id: ENST00000471180   ⟹   ENSP00000417526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,835 - 52,293,471 (+)Ensembl
RefSeq Acc Id: ENST00000473032   ⟹   ENSP00000418951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,820 - 52,293,469 (+)Ensembl
RefSeq Acc Id: ENST00000473583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,290,074 - 52,292,482 (+)Ensembl
RefSeq Acc Id: ENST00000477382   ⟹   ENSP00000419008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,290,314 - 52,293,005 (+)Ensembl
RefSeq Acc Id: ENST00000486393   ⟹   ENSP00000419868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,287,820 - 52,293,475 (+)Ensembl
RefSeq Acc Id: ENST00000489173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,290,684 - 52,293,475 (+)Ensembl
RefSeq Acc Id: NM_001144951   ⟹   NP_001138423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,279,556 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145262   ⟹   NP_660305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Build 36352,296,912 - 52,302,532 (+)NCBI Archive
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,281,807 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: NR_026699
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,281,807 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: NR_026700
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,281,807 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: NR_026701
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,281,807 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: NR_026702
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
GRCh37352,321,836 - 52,329,272 (+)RGD
Celera352,301,159 - 52,308,595 (+)RGD
HuRef352,384,478 - 52,391,914 (+)ENTREZGENE
CHM1_1352,274,371 - 52,281,807 (+)NCBI
T2T-CHM13v2.0352,320,727 - 52,328,156 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005730   ⟹   XP_016861219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453351   ⟹   XP_024309119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453352   ⟹   XP_024309120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,295,257 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447465   ⟹   XP_047303421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,293,471 (+)NCBI
RefSeq Acc Id: XM_047447466   ⟹   XP_047303422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,293,471 (+)NCBI
RefSeq Acc Id: XM_047447467   ⟹   XP_047303423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,293,471 (+)NCBI
RefSeq Acc Id: XM_054345280   ⟹   XP_054201255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,320,727 - 52,349,445 (+)NCBI
RefSeq Acc Id: XM_054345281   ⟹   XP_054201256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,320,727 - 52,326,376 (+)NCBI
RefSeq Acc Id: XM_054345282   ⟹   XP_054201257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,320,727 - 52,326,376 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001138423 (Get FASTA)   NCBI Sequence Viewer  
  NP_660305 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861219 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309119 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303421 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303422 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303423 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201256 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201257 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH21896 (Get FASTA)   NCBI Sequence Viewer  
  AAH36862 (Get FASTA)   NCBI Sequence Viewer  
  AAH42151 (Get FASTA)   NCBI Sequence Viewer  
  AAM95456 (Get FASTA)   NCBI Sequence Viewer  
  AAO17719 (Get FASTA)   NCBI Sequence Viewer  
  AAP41923 (Get FASTA)   NCBI Sequence Viewer  
  AAP51132 (Get FASTA)   NCBI Sequence Viewer  
  AAQ09607 (Get FASTA)   NCBI Sequence Viewer  
  ABD22985 (Get FASTA)   NCBI Sequence Viewer  
  BAB85018 (Get FASTA)   NCBI Sequence Viewer  
  EAW65205 (Get FASTA)   NCBI Sequence Viewer  
  EAW65206 (Get FASTA)   NCBI Sequence Viewer  
  EAW65207 (Get FASTA)   NCBI Sequence Viewer  
  EAW65208 (Get FASTA)   NCBI Sequence Viewer  
  EAW65209 (Get FASTA)   NCBI Sequence Viewer  
  EAW65210 (Get FASTA)   NCBI Sequence Viewer  
  EAW65211 (Get FASTA)   NCBI Sequence Viewer  
  EAW65212 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000301965
  ENSP00000301965.9
  ENSP00000389175
  ENSP00000389175.2
  ENSP00000417264.1
  ENSP00000417526
  ENSP00000417526.1
  ENSP00000418951.1
  ENSP00000419008
  ENSP00000419008.1
  ENSP00000419868.1
GenBank Protein Q8IVS8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_660305   ⟸   NM_145262
- Peptide Label: isoform 1
- UniProtKB: Q8TED2 (UniProtKB/Swiss-Prot),   Q86YR8 (UniProtKB/Swiss-Prot),   Q7Z6G5 (UniProtKB/Swiss-Prot),   Q6Y2K6 (UniProtKB/Swiss-Prot),   Q2EZ43 (UniProtKB/Swiss-Prot),   Q0P630 (UniProtKB/Swiss-Prot),   Q8WTY2 (UniProtKB/Swiss-Prot),   Q8IVS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138423   ⟸   NM_001144951
- Peptide Label: isoform 2
- UniProtKB: Q8IVS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861219   ⟸   XM_017005730
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024309120   ⟸   XM_024453352
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024309119   ⟸   XM_024453351
- Peptide Label: isoform X1
- UniProtKB: Q8TED2 (UniProtKB/Swiss-Prot),   Q8IVS8 (UniProtKB/Swiss-Prot),   Q86YR8 (UniProtKB/Swiss-Prot),   Q7Z6G5 (UniProtKB/Swiss-Prot),   Q6Y2K6 (UniProtKB/Swiss-Prot),   Q2EZ43 (UniProtKB/Swiss-Prot),   Q0P630 (UniProtKB/Swiss-Prot),   Q8WTY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000419008   ⟸   ENST00000477382
RefSeq Acc Id: ENSP00000417526   ⟸   ENST00000471180
RefSeq Acc Id: ENSP00000419868   ⟸   ENST00000486393
RefSeq Acc Id: ENSP00000418951   ⟸   ENST00000473032
RefSeq Acc Id: ENSP00000417264   ⟸   ENST00000461183
RefSeq Acc Id: ENSP00000389175   ⟸   ENST00000436784
RefSeq Acc Id: ENSP00000301965   ⟸   ENST00000305690
RefSeq Acc Id: XP_047303421   ⟸   XM_047447465
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303422   ⟸   XM_047447466
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303423   ⟸   XM_047447467
- Peptide Label: isoform X4
- UniProtKB: C9JA32 (UniProtKB/TrEMBL),   C9J3N5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201255   ⟸   XM_054345280
- Peptide Label: isoform X1
- UniProtKB: Q8TED2 (UniProtKB/Swiss-Prot),   Q8IVS8 (UniProtKB/Swiss-Prot),   Q86YR8 (UniProtKB/Swiss-Prot),   Q7Z6G5 (UniProtKB/Swiss-Prot),   Q6Y2K6 (UniProtKB/Swiss-Prot),   Q2EZ43 (UniProtKB/Swiss-Prot),   Q0P630 (UniProtKB/Swiss-Prot),   Q8WTY2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201256   ⟸   XM_054345281
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054201257   ⟸   XM_054345282
- Peptide Label: isoform X4
- UniProtKB: C9JA32 (UniProtKB/TrEMBL),   C9J3N5 (UniProtKB/TrEMBL)
Protein Domains
MOFRL-associated

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IVS8-F1-model_v2 AlphaFold Q8IVS8 1-523 view protein structure

Promoters
RGD ID:6864630
Promoter ID:EPDNEW_H5480
Type:initiation region
Name:GLYCTK_1
Description:glycerate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5482  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,287,828 - 52,287,888EPDNEW
RGD ID:6864634
Promoter ID:EPDNEW_H5482
Type:initiation region
Name:GLYCTK_2
Description:glycerate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5480  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,290,066 - 52,290,126EPDNEW
RGD ID:6801079
Promoter ID:HG_KWN:45214
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:NM_001144951,   NM_145262,   NR_026699,   NR_026700,   NR_026701,   NR_026702
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,296,046 - 52,297,027 (+)MPROMDB
RGD ID:6801078
Promoter ID:HG_KWN:45216
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003DDR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,300,286 - 52,300,786 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24247 AgrOrtholog
COSMIC GLYCTK COSMIC
Ensembl Genes ENSG00000168237 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000305690 ENTREZGENE
  ENST00000305690.12 UniProtKB/Swiss-Prot
  ENST00000436784 ENTREZGENE
  ENST00000436784.7 UniProtKB/Swiss-Prot
  ENST00000461183.5 UniProtKB/TrEMBL
  ENST00000471180 ENTREZGENE
  ENST00000471180.5 UniProtKB/TrEMBL
  ENST00000473032.5 UniProtKB/Swiss-Prot
  ENST00000477382 ENTREZGENE
  ENST00000477382.1 UniProtKB/Swiss-Prot
  ENST00000486393.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1480.10 UniProtKB/Swiss-Prot
  3.40.50.10180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168237 GTEx
HGNC ID HGNC:24247 ENTREZGENE
Human Proteome Map GLYCTK Human Proteome Map
InterPro GK-like_C_sf UniProtKB/Swiss-Prot
  GK_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOFRL UniProtKB/Swiss-Prot
  MOFRL_assoc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOFRL_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:132158 UniProtKB/Swiss-Prot
NCBI Gene 132158 ENTREZGENE
OMIM 610516 OMIM
PANTHER GLYCERATE KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12227 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4147 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOFRL UniProtKB/Swiss-Prot
PharmGKB PA162389865 PharmGKB
Superfamily-SCOP GckA/TtuD-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGA0_HUMAN UniProtKB/TrEMBL
  C9J3N5 ENTREZGENE, UniProtKB/TrEMBL
  C9JA32 ENTREZGENE, UniProtKB/TrEMBL
  GLCTK_HUMAN UniProtKB/Swiss-Prot
  Q0P630 ENTREZGENE
  Q2EZ43 ENTREZGENE
  Q6Y2K6 ENTREZGENE
  Q7Z6G5 ENTREZGENE
  Q86YR8 ENTREZGENE
  Q8IVS8 ENTREZGENE
  Q8TED2 ENTREZGENE
  Q8WTY2 ENTREZGENE
UniProt Secondary Q0P630 UniProtKB/Swiss-Prot
  Q2EZ43 UniProtKB/Swiss-Prot
  Q6Y2K6 UniProtKB/Swiss-Prot
  Q7Z6G5 UniProtKB/Swiss-Prot
  Q86YR8 UniProtKB/Swiss-Prot
  Q8TED2 UniProtKB/Swiss-Prot
  Q8WTY2 UniProtKB/Swiss-Prot