IQGAP3 (IQ motif containing GTPase activating protein 3) - Rat Genome Database

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Gene: IQGAP3 (IQ motif containing GTPase activating protein 3) Homo sapiens
Analyze
Symbol: IQGAP3
Name: IQ motif containing GTPase activating protein 3
RGD ID: 1314286
HGNC Page HGNC:20669
Description: Enables calmodulin binding activity and myosin VI light chain binding activity. Predicted to be involved in mitotic actomyosin contractile ring assembly actin filament organization. Predicted to act upstream of or within several processes, including G1/S transition of mitotic cell cycle; intracellular signaling cassette; and regulation of gene expression. Predicted to be located in cytosol. Predicted to be active in cell cortex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC10170; MGC10831; MGC1947; ras GTPase-activating-like protein IQGAP3
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
GRCh381156,525,405 - 156,572,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,525,405 - 156,572,604 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,495,197 - 156,542,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,761,821 - 154,809,020 (-)NCBINCBI36Build 36hg18NCBI36
Build 341153,308,270 - 153,355,469NCBI
Celera1129,568,222 - 129,613,182 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,855,158 - 127,900,121 (-)NCBIHuRef
CHM1_11157,891,665 - 157,938,571 (-)NCBICHM1_1
T2T-CHM13v2.01155,663,992 - 155,708,965 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
auramine O  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
FR900359  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
lidocaine  (ISO)
lucanthone  (EXP)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
resveratrol  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
xylitol  (EXP)
zaragozic acid A  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17244649   PMID:17314511   PMID:19322201   PMID:19961560   PMID:20360068   PMID:20800603   PMID:21299499   PMID:21565611   PMID:21873635   PMID:23667531  
PMID:23956138   PMID:24639526   PMID:24778252   PMID:24849319   PMID:24981860   PMID:25229330   PMID:25416956   PMID:25722290   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26485645  
PMID:26496610   PMID:26618866   PMID:26972000   PMID:27107012   PMID:27173435   PMID:27320910   PMID:27609421   PMID:28281966   PMID:28514442   PMID:28810875   PMID:28970065   PMID:29073199  
PMID:29131081   PMID:29509190   PMID:29615496   PMID:29955894   PMID:30021884   PMID:30446454   PMID:30462309   PMID:30561431   PMID:30575818   PMID:30940648   PMID:30948266   PMID:31073040  
PMID:31088707   PMID:31527615   PMID:31544570   PMID:31586073   PMID:31605603   PMID:31871319   PMID:31980649   PMID:32707033   PMID:32814053   PMID:32824461   PMID:32896617   PMID:33005030  
PMID:33230847   PMID:33306668   PMID:33711283   PMID:33961781   PMID:34183451   PMID:35013556   PMID:35271311   PMID:35412170   PMID:35439318   PMID:35446349   PMID:35563538   PMID:35748872  
PMID:35944360   PMID:36164370   PMID:36215168   PMID:36275458   PMID:36398662   PMID:36526897   PMID:36538041   PMID:36681115   PMID:37071664   PMID:37827155   PMID:38282143  


Genomics

Comparative Map Data
IQGAP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,525,405 - 156,572,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,525,405 - 156,572,604 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,495,197 - 156,542,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,761,821 - 154,809,020 (-)NCBINCBI36Build 36hg18NCBI36
Build 341153,308,270 - 153,355,469NCBI
Celera1129,568,222 - 129,613,182 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,855,158 - 127,900,121 (-)NCBIHuRef
CHM1_11157,891,665 - 157,938,571 (-)NCBICHM1_1
T2T-CHM13v2.01155,663,992 - 155,708,965 (-)NCBIT2T-CHM13v2.0
Iqgap3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39387,989,309 - 88,028,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl387,989,278 - 88,028,355 (+)EnsemblGRCm39 Ensembl
GRCm38388,082,002 - 88,121,048 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,081,971 - 88,121,048 (+)EnsemblGRCm38mm10GRCm38
MGSCv37387,885,973 - 87,924,970 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,167,927 - 88,206,975 (+)NCBIMGSCv36mm8
Celera388,121,650 - 88,160,680 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.78NCBI
Iqgap3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82175,840,001 - 175,881,799 (+)NCBIGRCr8
mRatBN7.22173,542,151 - 173,583,956 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2173,542,110 - 173,583,956 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2180,687,034 - 180,729,301 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02178,709,397 - 178,751,662 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02173,309,550 - 173,351,256 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02187,447,477 - 187,489,630 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,447,501 - 187,489,630 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02206,850,518 - 206,892,647 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,155,679 - 180,198,814 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12180,105,779 - 180,148,920 (+)NCBI
Celera2167,489,087 - 167,530,440 (+)NCBICelera
Cytogenetic Map2q34NCBI
Iqgap3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,628,552 - 2,663,737 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,627,334 - 2,663,786 (-)NCBIChiLan1.0ChiLan1.0
IQGAP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,271,635 - 93,322,412 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1193,006,109 - 93,051,298 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,869,002 - 131,916,554 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,695,602 - 135,740,564 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,695,602 - 135,740,564 (-)Ensemblpanpan1.1panPan2
IQGAP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,384,539 - 41,420,529 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,382,994 - 41,419,742 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha740,872,320 - 40,909,618 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,248,244 - 41,286,318 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl741,248,319 - 41,283,331 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,029,802 - 41,067,862 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,083,049 - 41,121,112 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,366,730 - 41,404,794 (+)NCBIUU_Cfam_GSD_1.0
Iqgap3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,681,729 - 26,721,359 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365805,713,156 - 5,751,721 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365805,712,118 - 5,751,721 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IQGAP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,513,187 - 93,559,001 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,495,999 - 93,556,915 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,133,942 - 102,178,070 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IQGAP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,286,819 - 7,334,352 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl207,286,886 - 7,333,284 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660386,586,464 - 6,633,765 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iqgap3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248851,730,771 - 1,765,180 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248851,730,079 - 1,765,250 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IQGAP3
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_178229.4(IQGAP3):c.3477C>T (p.Phe1159=) single nucleotide variant Malignant melanoma [RCV000059924] Chr1:156535193 [GRCh38]
Chr1:156504985 [GRCh37]
Chr1:154771609 [NCBI36]
Chr1:1q22
not provided
NM_178229.4(IQGAP3):c.949C>T (p.Gln317Ter) single nucleotide variant Malignant melanoma [RCV000064202] Chr1:156561930 [GRCh38]
Chr1:156531722 [GRCh37]
Chr1:154798346 [NCBI36]
Chr1:1q22
not provided
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 copy number loss See cases [RCV000138561] Chr1:156256495..156681863 [GRCh38]
Chr1:156226286..156651655 [GRCh37]
Chr1:154492910..154918279 [NCBI36]
Chr1:1q22-23.1
likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_178229.5(IQGAP3):c.2242C>G (p.Gln748Glu) single nucleotide variant Inborn genetic diseases [RCV003297709] Chr1:156548135 [GRCh38]
Chr1:156517927 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.7A>G (p.Arg3Gly) single nucleotide variant Inborn genetic diseases [RCV003275372] Chr1:156572523 [GRCh38]
Chr1:156542315 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.2563C>G (p.Arg855Gly) single nucleotide variant Inborn genetic diseases [RCV003299635] Chr1:156540884 [GRCh38]
Chr1:156510676 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1
pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1
uncertain significance
GRCh37/hg19 1q22-23.1(chr1:156408917-156534664)x1 copy number loss not provided [RCV000684660] Chr1:156408917..156534664 [GRCh37]
Chr1:1q22-23.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
LMNA-NTRK1 fusion fusion Congenital fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1
pathogenic
NM_178229.5(IQGAP3):c.2534A>G (p.His845Arg) single nucleotide variant Inborn genetic diseases [RCV003245978] Chr1:156540913 [GRCh38]
Chr1:156510705 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.531C>A (p.Ser177=) single nucleotide variant IQGAP3-related condition [RCV003978328]|not provided [RCV000958505] Chr1:156563641 [GRCh38]
Chr1:156533433 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.4035G>A (p.Thr1345=) single nucleotide variant not provided [RCV000917705] Chr1:156533048 [GRCh38]
Chr1:156502840 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3422+6T>A single nucleotide variant Motor and sensory neuropathy [RCV000856566] Chr1:156537175 [GRCh38]
Chr1:156506967 [GRCh37]
Chr1:1q22
likely pathogenic
NM_178229.5(IQGAP3):c.1684G>A (p.Ala562Thr) single nucleotide variant not provided [RCV000958492] Chr1:156551755 [GRCh38]
Chr1:156521547 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.3407C>T (p.Ser1136Phe) single nucleotide variant Inborn genetic diseases [RCV003268347] Chr1:156537196 [GRCh38]
Chr1:156506988 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1
uncertain significance
NM_178229.5(IQGAP3):c.4537C>T (p.Arg1513Trp) single nucleotide variant Inborn genetic diseases [RCV003251252] Chr1:156528950 [GRCh38]
Chr1:156498742 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1711G>T (p.Ala571Ser) single nucleotide variant Inborn genetic diseases [RCV003240286] Chr1:156551728 [GRCh38]
Chr1:156521520 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4703C>T (p.Pro1568Leu) single nucleotide variant Inborn genetic diseases [RCV003239605] Chr1:156528031 [GRCh38]
Chr1:156497823 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3577G>A (p.Val1193Met) single nucleotide variant Inborn genetic diseases [RCV003249933] Chr1:156534664 [GRCh38]
Chr1:156504456 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1228G>C (p.Val410Leu) single nucleotide variant not provided [RCV001541400] Chr1:156556595 [GRCh38]
Chr1:156526387 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.980G>A (p.Arg327Lys) single nucleotide variant Inborn genetic diseases [RCV003252730] Chr1:156561899 [GRCh38]
Chr1:156531691 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2265C>T (p.His755=) single nucleotide variant not provided [RCV000969835] Chr1:156548112 [GRCh38]
Chr1:156517904 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1778G>T (p.Arg593Leu) single nucleotide variant IQGAP3-related condition [RCV003926023]|not provided [RCV000955250] Chr1:156550308 [GRCh38]
Chr1:156520100 [GRCh37]
Chr1:1q22
benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_178229.5(IQGAP3):c.4762C>T (p.Arg1588Ter) single nucleotide variant not provided [RCV001814856] Chr1:156527972 [GRCh38]
Chr1:156497764 [GRCh37]
Chr1:1q22
uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1
pathogenic
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_178229.5(IQGAP3):c.979A>T (p.Arg327Trp) single nucleotide variant Inborn genetic diseases [RCV003277852] Chr1:156561900 [GRCh38]
Chr1:156531692 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3002G>A (p.Arg1001Gln) single nucleotide variant Inborn genetic diseases [RCV003264477] Chr1:156539428 [GRCh38]
Chr1:156509220 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2999G>A (p.Arg1000His) single nucleotide variant Inborn genetic diseases [RCV002683345] Chr1:156539431 [GRCh38]
Chr1:156509223 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4223G>A (p.Arg1408His) single nucleotide variant Inborn genetic diseases [RCV002990048] Chr1:156530286 [GRCh38]
Chr1:156500078 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4514G>A (p.Gly1505Asp) single nucleotide variant Inborn genetic diseases [RCV002864581] Chr1:156528973 [GRCh38]
Chr1:156498765 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4502A>G (p.Tyr1501Cys) single nucleotide variant Inborn genetic diseases [RCV002733441] Chr1:156528985 [GRCh38]
Chr1:156498777 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4363G>A (p.Ala1455Thr) single nucleotide variant Inborn genetic diseases [RCV002734467] Chr1:156530146 [GRCh38]
Chr1:156499938 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3988G>A (p.Ala1330Thr) single nucleotide variant Inborn genetic diseases [RCV002968661] Chr1:156533095 [GRCh38]
Chr1:156502887 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4337G>A (p.Arg1446Gln) single nucleotide variant Inborn genetic diseases [RCV002945658] Chr1:156530172 [GRCh38]
Chr1:156499964 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1730C>T (p.Ala577Val) single nucleotide variant Inborn genetic diseases [RCV002684678] Chr1:156551709 [GRCh38]
Chr1:156521501 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2420G>A (p.Arg807Gln) single nucleotide variant Inborn genetic diseases [RCV002733940] Chr1:156544192 [GRCh38]
Chr1:156513984 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.479A>G (p.Asp160Gly) single nucleotide variant Inborn genetic diseases [RCV002704519] Chr1:156563783 [GRCh38]
Chr1:156533575 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2726G>A (p.Arg909Gln) single nucleotide variant Inborn genetic diseases [RCV002757375] Chr1:156540721 [GRCh38]
Chr1:156510513 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2563C>A (p.Arg855Ser) single nucleotide variant Inborn genetic diseases [RCV002912236] Chr1:156540884 [GRCh38]
Chr1:156510676 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3533G>A (p.Arg1178His) single nucleotide variant Inborn genetic diseases [RCV002703808] Chr1:156534708 [GRCh38]
Chr1:156504500 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3889C>A (p.Gln1297Lys) single nucleotide variant Inborn genetic diseases [RCV002869211] Chr1:156533860 [GRCh38]
Chr1:156503652 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4318G>A (p.Val1440Ile) single nucleotide variant Inborn genetic diseases [RCV002758998] Chr1:156530191 [GRCh38]
Chr1:156499983 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4756A>G (p.Met1586Val) single nucleotide variant Inborn genetic diseases [RCV002998092] Chr1:156527978 [GRCh38]
Chr1:156497770 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4294C>T (p.Pro1432Ser) single nucleotide variant Inborn genetic diseases [RCV002697657] Chr1:156530215 [GRCh38]
Chr1:156500007 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4889G>A (p.Arg1630Gln) single nucleotide variant Inborn genetic diseases [RCV002987253] Chr1:156526493 [GRCh38]
Chr1:156496285 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4535T>C (p.Ile1512Thr) single nucleotide variant Inborn genetic diseases [RCV002875441] Chr1:156528952 [GRCh38]
Chr1:156498744 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2817G>C (p.Gln939His) single nucleotide variant Inborn genetic diseases [RCV002874858] Chr1:156539913 [GRCh38]
Chr1:156509705 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2443C>T (p.His815Tyr) single nucleotide variant Inborn genetic diseases [RCV002929404] Chr1:156544169 [GRCh38]
Chr1:156513961 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4471T>G (p.Leu1491Val) single nucleotide variant Inborn genetic diseases [RCV002762908] Chr1:156529016 [GRCh38]
Chr1:156498808 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4054G>A (p.Gly1352Arg) single nucleotide variant Inborn genetic diseases [RCV002788011] Chr1:156533029 [GRCh38]
Chr1:156502821 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.58G>A (p.Glu20Lys) single nucleotide variant Inborn genetic diseases [RCV002768263] Chr1:156569443 [GRCh38]
Chr1:156539235 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1370G>A (p.Arg457Gln) single nucleotide variant Inborn genetic diseases [RCV002696745] Chr1:156554313 [GRCh38]
Chr1:156524105 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3139C>T (p.Arg1047Trp) single nucleotide variant Inborn genetic diseases [RCV002641061] Chr1:156538951 [GRCh38]
Chr1:156508743 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.208A>C (p.Lys70Gln) single nucleotide variant Inborn genetic diseases [RCV002915521] Chr1:156566464 [GRCh38]
Chr1:156536256 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.722G>A (p.Arg241Gln) single nucleotide variant Inborn genetic diseases [RCV002804741] Chr1:156563210 [GRCh38]
Chr1:156533002 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1919G>A (p.Arg640Gln) single nucleotide variant Inborn genetic diseases [RCV002648988] Chr1:156548655 [GRCh38]
Chr1:156518447 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3608C>G (p.Ala1203Gly) single nucleotide variant Inborn genetic diseases [RCV002718007] Chr1:156534633 [GRCh38]
Chr1:156504425 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4835A>T (p.Lys1612Met) single nucleotide variant Inborn genetic diseases [RCV002748036] Chr1:156526547 [GRCh38]
Chr1:156496339 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3080A>C (p.Asp1027Ala) single nucleotide variant Inborn genetic diseases [RCV002960092] Chr1:156539010 [GRCh38]
Chr1:156508802 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3698G>T (p.Arg1233Leu) single nucleotide variant Inborn genetic diseases [RCV002960236] Chr1:156534543 [GRCh38]
Chr1:156504335 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1178C>T (p.Ala393Val) single nucleotide variant Inborn genetic diseases [RCV002702338] Chr1:156556645 [GRCh38]
Chr1:156526437 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.800A>G (p.Asp267Gly) single nucleotide variant Inborn genetic diseases [RCV002719100] Chr1:156562664 [GRCh38]
Chr1:156532456 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1352A>G (p.Asn451Ser) single nucleotide variant Inborn genetic diseases [RCV002719143] Chr1:156554331 [GRCh38]
Chr1:156524123 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4247C>T (p.Pro1416Leu) single nucleotide variant Inborn genetic diseases [RCV002961559] Chr1:156530262 [GRCh38]
Chr1:156500054 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1648C>T (p.Pro550Ser) single nucleotide variant Inborn genetic diseases [RCV002657201] Chr1:156551791 [GRCh38]
Chr1:156521583 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2054T>C (p.Leu685Pro) single nucleotide variant Inborn genetic diseases [RCV003215561] Chr1:156548427 [GRCh38]
Chr1:156518219 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.901G>A (p.Asp301Asn) single nucleotide variant Inborn genetic diseases [RCV003210667] Chr1:156561978 [GRCh38]
Chr1:156531770 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2564G>A (p.Arg855His) single nucleotide variant Inborn genetic diseases [RCV003284704] Chr1:156540883 [GRCh38]
Chr1:156510675 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3836T>G (p.Val1279Gly) single nucleotide variant Inborn genetic diseases [RCV003208401] Chr1:156534046 [GRCh38]
Chr1:156503838 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4666G>C (p.Ala1556Pro) single nucleotide variant Inborn genetic diseases [RCV003218501] Chr1:156528516 [GRCh38]
Chr1:156498308 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.867C>G (p.Asn289Lys) single nucleotide variant Inborn genetic diseases [RCV003265260] Chr1:156562597 [GRCh38]
Chr1:156532389 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_178229.5(IQGAP3):c.3747C>A (p.Phe1249Leu) single nucleotide variant Inborn genetic diseases [RCV003357533] Chr1:156534135 [GRCh38]
Chr1:156503927 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4393G>A (p.Glu1465Lys) single nucleotide variant Inborn genetic diseases [RCV003381013] Chr1:156530116 [GRCh38]
Chr1:156499908 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3730C>T (p.Leu1244Phe) single nucleotide variant Inborn genetic diseases [RCV003371680] Chr1:156534511 [GRCh38]
Chr1:156504303 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1059G>C (p.Glu353Asp) single nucleotide variant Inborn genetic diseases [RCV003362500] Chr1:156561004 [GRCh38]
Chr1:156530796 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3923T>C (p.Leu1308Pro) single nucleotide variant Inborn genetic diseases [RCV003384534] Chr1:156533826 [GRCh38]
Chr1:156503618 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.440T>C (p.Leu147Pro) single nucleotide variant Inborn genetic diseases [RCV003384999] Chr1:156563822 [GRCh38]
Chr1:156533614 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3359G>T (p.Arg1120Leu) single nucleotide variant Inborn genetic diseases [RCV003374098] Chr1:156537244 [GRCh38]
Chr1:156507036 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.1595A>G (p.Asn532Ser) single nucleotide variant Inborn genetic diseases [RCV003354215] Chr1:156551844 [GRCh38]
Chr1:156521636 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.2323A>G (p.Arg775Gly) single nucleotide variant Inborn genetic diseases [RCV003346939] Chr1:156544454 [GRCh38]
Chr1:156514246 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3437A>C (p.Tyr1146Ser) single nucleotide variant Inborn genetic diseases [RCV003351718] Chr1:156535233 [GRCh38]
Chr1:156505025 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4229C>T (p.Ala1410Val) single nucleotide variant Inborn genetic diseases [RCV003351719] Chr1:156530280 [GRCh38]
Chr1:156500072 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.59A>C (p.Glu20Ala) single nucleotide variant Inborn genetic diseases [RCV003369643] Chr1:156569442 [GRCh38]
Chr1:156539234 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3436T>C (p.Tyr1146His) single nucleotide variant not provided [RCV003487933] Chr1:156535234 [GRCh38]
Chr1:156505026 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4205A>G (p.Lys1402Arg) single nucleotide variant not provided [RCV003409146] Chr1:156530304 [GRCh38]
Chr1:156500096 [GRCh37]
Chr1:1q22
likely benign
GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1 copy number loss not provided [RCV003483416] Chr1:156486831..156590431 [GRCh37]
Chr1:1q22-23.1
uncertain significance
NM_178229.5(IQGAP3):c.1132C>T (p.Leu378Phe) single nucleotide variant IQGAP3-related condition [RCV003400039] Chr1:156556691 [GRCh38]
Chr1:156526483 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.970C>T (p.Arg324Ter) single nucleotide variant not provided [RCV003487935] Chr1:156561909 [GRCh38]
Chr1:156531701 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.3906T>C (p.Pro1302=) single nucleotide variant not provided [RCV003409147] Chr1:156533843 [GRCh38]
Chr1:156503635 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4405-6C>T single nucleotide variant not provided [RCV003409145] Chr1:156529088 [GRCh38]
Chr1:156498880 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.288T>C (p.Thr96=) single nucleotide variant not provided [RCV003409148] Chr1:156566099 [GRCh38]
Chr1:156535891 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.2331del (p.Lys778fs) deletion not provided [RCV003487934] Chr1:156544446 [GRCh38]
Chr1:156514238 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.526G>C (p.Ala176Pro) single nucleotide variant not provided [RCV003487932] Chr1:156563646 [GRCh38]
Chr1:156533438 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.4644G>C (p.Leu1548Phe) single nucleotide variant not provided [RCV003711194] Chr1:156528538 [GRCh38]
Chr1:156498330 [GRCh37]
Chr1:1q22
uncertain significance
NM_178229.5(IQGAP3):c.438-7T>C single nucleotide variant IQGAP3-related condition [RCV003939455] Chr1:156563831 [GRCh38]
Chr1:156533623 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1289G>A (p.Gly430Glu) single nucleotide variant IQGAP3-related condition [RCV003941373] Chr1:156556534 [GRCh38]
Chr1:156526326 [GRCh37]
Chr1:1q22
likely benign
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_178229.5(IQGAP3):c.3987C>T (p.Ile1329=) single nucleotide variant IQGAP3-related condition [RCV003907168] Chr1:156533096 [GRCh38]
Chr1:156502888 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1185C>T (p.Asp395=) single nucleotide variant IQGAP3-related condition [RCV003979288] Chr1:156556638 [GRCh38]
Chr1:156526430 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.3846C>T (p.Thr1282=) single nucleotide variant IQGAP3-related condition [RCV003909262] Chr1:156534036 [GRCh38]
Chr1:156503828 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3663T>C (p.Ala1221=) single nucleotide variant IQGAP3-related condition [RCV003926928] Chr1:156534578 [GRCh38]
Chr1:156504370 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.1042-7C>G single nucleotide variant IQGAP3-related condition [RCV003981734] Chr1:156561028 [GRCh38]
Chr1:156530820 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1288G>C (p.Gly430Arg) single nucleotide variant IQGAP3-related condition [RCV003969239] Chr1:156556535 [GRCh38]
Chr1:156526327 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.258C>T (p.Tyr86=) single nucleotide variant IQGAP3-related condition [RCV003911404] Chr1:156566414 [GRCh38]
Chr1:156536206 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1148G>A (p.Arg383Gln) single nucleotide variant IQGAP3-related condition [RCV003931699] Chr1:156556675 [GRCh38]
Chr1:156526467 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.4268G>A (p.Arg1423His) single nucleotide variant IQGAP3-related condition [RCV003942104] Chr1:156530241 [GRCh38]
Chr1:156500033 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3798C>T (p.Asp1266=) single nucleotide variant IQGAP3-related condition [RCV003929390] Chr1:156534084 [GRCh38]
Chr1:156503876 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.1933G>A (p.Asp645Asn) single nucleotide variant IQGAP3-related condition [RCV003931926] Chr1:156548641 [GRCh38]
Chr1:156518433 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.4122C>T (p.Ala1374=) single nucleotide variant IQGAP3-related condition [RCV003932000] Chr1:156531229 [GRCh38]
Chr1:156501021 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.3483C>T (p.Asp1161=) single nucleotide variant IQGAP3-related condition [RCV003979404] Chr1:156535187 [GRCh38]
Chr1:156504979 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3873+8G>T single nucleotide variant IQGAP3-related condition [RCV003964666] Chr1:156534001 [GRCh38]
Chr1:156503793 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.975G>A (p.Gly325=) single nucleotide variant IQGAP3-related condition [RCV003964760] Chr1:156561904 [GRCh38]
Chr1:156531696 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4005G>A (p.Thr1335=) single nucleotide variant IQGAP3-related condition [RCV003981286] Chr1:156533078 [GRCh38]
Chr1:156502870 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.2907C>T (p.Tyr969=) single nucleotide variant IQGAP3-related condition [RCV003932311] Chr1:156539523 [GRCh38]
Chr1:156509315 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3370G>A (p.Ala1124Thr) single nucleotide variant IQGAP3-related condition [RCV003974527] Chr1:156537233 [GRCh38]
Chr1:156507025 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.3564C>T (p.Asp1188=) single nucleotide variant IQGAP3-related condition [RCV003909866] Chr1:156534677 [GRCh38]
Chr1:156504469 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4334G>A (p.Arg1445His) single nucleotide variant IQGAP3-related condition [RCV003924321] Chr1:156530175 [GRCh38]
Chr1:156499967 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.644A>G (p.Asn215Ser) single nucleotide variant IQGAP3-related condition [RCV003934265] Chr1:156563288 [GRCh38]
Chr1:156533080 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.528G>A (p.Ala176=) single nucleotide variant IQGAP3-related condition [RCV003917092] Chr1:156563644 [GRCh38]
Chr1:156533436 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4563C>T (p.Pro1521=) single nucleotide variant IQGAP3-related condition [RCV003907053] Chr1:156528924 [GRCh38]
Chr1:156498716 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4383G>A (p.Gly1461=) single nucleotide variant IQGAP3-related condition [RCV003914338] Chr1:156530126 [GRCh38]
Chr1:156499918 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.4248G>A (p.Pro1416=) single nucleotide variant IQGAP3-related condition [RCV003947277] Chr1:156530261 [GRCh38]
Chr1:156500053 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3507+5G>A single nucleotide variant IQGAP3-related condition [RCV003907100] Chr1:156535158 [GRCh38]
Chr1:156504950 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.3976+5G>A single nucleotide variant IQGAP3-related condition [RCV003979053] Chr1:156533768 [GRCh38]
Chr1:156503560 [GRCh37]
Chr1:1q22
benign
NM_178229.5(IQGAP3):c.792G>A (p.Arg264=) single nucleotide variant IQGAP3-related condition [RCV003914566] Chr1:156563140 [GRCh38]
Chr1:156532932 [GRCh37]
Chr1:1q22
likely benign
NM_178229.5(IQGAP3):c.28T>C (p.Trp10Arg) single nucleotide variant IQGAP3-related condition [RCV003976587] Chr1:156572502 [GRCh38]
Chr1:156542294 [GRCh37]
Chr1:1q22
benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1448
Count of miRNA genes:738
Interacting mature miRNAs:879
Transcripts:ENST00000361170, ENST00000476565, ENST00000491900, ENST00000498755
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
SHGC-146556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,542,910 - 156,543,189UniSTSGRCh37
Build 361154,809,534 - 154,809,813RGDNCBI36
Celera1129,613,696 - 129,613,975RGD
Cytogenetic Map1q21.3UniSTS
HuRef1127,900,635 - 127,900,914UniSTS
TNG Radiation Hybrid Map170061.0UniSTS
SHGC-146655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,500,203 - 156,500,500UniSTSGRCh37
Build 361154,766,827 - 154,767,124RGDNCBI36
Celera1129,573,228 - 129,573,525RGD
Cytogenetic Map1q21.3UniSTS
HuRef1127,860,167 - 127,860,464UniSTS
TNG Radiation Hybrid Map170096.0UniSTS
SHGC-147771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,504,717 - 156,505,028UniSTSGRCh37
Build 361154,771,341 - 154,771,652RGDNCBI36
Celera1129,577,742 - 129,578,053RGD
Cytogenetic Map1q21.3UniSTS
HuRef1127,864,681 - 127,864,992UniSTS
TNG Radiation Hybrid Map170081.0UniSTS
D1S2557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,523,101 - 156,523,305UniSTSGRCh37
Build 361154,789,725 - 154,789,929RGDNCBI36
Celera1129,596,119 - 129,596,323RGD
Cytogenetic Map1q21.3UniSTS
HuRef1127,883,058 - 127,883,262UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 309 17 77 70 367 72 294 58 106 84 443 315 11 8 3 3
Low 1050 1171 720 288 989 175 2390 308 1001 190 596 895 114 595 1453 1
Below cutoff 1076 1781 922 260 559 214 1665 1814 2557 143 410 399 46 600 1325 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_178229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB105103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY253300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM910515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB345527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000361170   ⟹   ENSP00000354451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,525,405 - 156,572,565 (-)Ensembl
RefSeq Acc Id: ENST00000476565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,536,831 - 156,538,861 (-)Ensembl
RefSeq Acc Id: ENST00000491900   ⟹   ENSP00000436603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,525,405 - 156,572,604 (-)Ensembl
RefSeq Acc Id: ENST00000498755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,537,176 - 156,539,465 (-)Ensembl
RefSeq Acc Id: NM_178229   ⟹   NP_839943
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,572,565 (-)NCBI
GRCh371156,495,197 - 156,542,396 (-)RGD
Build 361154,761,821 - 154,809,020 (-)NCBI Archive
Celera1129,568,222 - 129,613,182 (-)RGD
HuRef1127,855,158 - 127,900,121 (-)ENTREZGENE
CHM1_11157,891,665 - 157,938,571 (-)NCBI
T2T-CHM13v2.01155,663,992 - 155,708,921 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509198   ⟹   XP_011507500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,572,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509200   ⟹   XP_011507502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,556,479 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509201   ⟹   XP_011507503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,556,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445990   ⟹   XP_047301946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,572,565 (-)NCBI
RefSeq Acc Id: XM_047445996   ⟹   XP_047301952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,572,565 (-)NCBI
RefSeq Acc Id: XM_047446003   ⟹   XP_047301959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,525,405 - 156,566,107 (-)NCBI
RefSeq Acc Id: XM_054334421   ⟹   XP_054190396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,936 (-)NCBI
RefSeq Acc Id: XM_054334422   ⟹   XP_054190397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,936 (-)NCBI
RefSeq Acc Id: XM_054334423   ⟹   XP_054190398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,921 (-)NCBI
RefSeq Acc Id: XM_054334424   ⟹   XP_054190399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,965 (-)NCBI
RefSeq Acc Id: XM_054334425   ⟹   XP_054190400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,937 (-)NCBI
RefSeq Acc Id: XM_054334426   ⟹   XP_054190401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,708,921 (-)NCBI
RefSeq Acc Id: XM_054334427   ⟹   XP_054190402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,702,462 (-)NCBI
RefSeq Acc Id: XM_054334428   ⟹   XP_054190403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,695,066 (-)NCBI
RefSeq Acc Id: XM_054334429   ⟹   XP_054190404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,663,992 - 155,695,200 (-)NCBI
Protein Sequences
Protein RefSeqs NP_839943 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507500 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507502 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190396 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190399 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190403 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190404 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI31537 (Get FASTA)   NCBI Sequence Viewer  
  AAP06954 (Get FASTA)   NCBI Sequence Viewer  
  BAC78211 (Get FASTA)   NCBI Sequence Viewer  
  BAC85501 (Get FASTA)   NCBI Sequence Viewer  
  CDH92866 (Get FASTA)   NCBI Sequence Viewer  
  EAW52945 (Get FASTA)   NCBI Sequence Viewer  
  EAW52946 (Get FASTA)   NCBI Sequence Viewer  
  EAW52947 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354451
  ENSP00000354451.2
  ENSP00000436603.1
  ENSP00000517286.1
GenBank Protein Q86VI3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_839943   ⟸   NM_178229
- UniProtKB: Q86VI3 (UniProtKB/Swiss-Prot),   Q5T3H8 (UniProtKB/Swiss-Prot),   A2RRC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507500   ⟸   XM_011509198
- Peptide Label: isoform X1
- UniProtKB: A2RRC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507503   ⟸   XM_011509201
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011507502   ⟸   XM_011509200
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000436603   ⟸   ENST00000491900
RefSeq Acc Id: ENSP00000354451   ⟸   ENST00000361170
RefSeq Acc Id: XP_047301952   ⟸   XM_047445996
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301946   ⟸   XM_047445990
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047301959   ⟸   XM_047446003
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190399   ⟸   XM_054334424
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190400   ⟸   XM_054334425
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190397   ⟸   XM_054334422
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054190396   ⟸   XM_054334421
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054190401   ⟸   XM_054334426
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190398   ⟸   XM_054334423
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054190402   ⟸   XM_054334427
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054190404   ⟸   XM_054334429
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054190403   ⟸   XM_054334428
- Peptide Label: isoform X5
Protein Domains
Calponin-homology (CH)   IQ   Ras-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86VI3-F1-model_v2 AlphaFold Q86VI3 1-1631 view protein structure

Promoters
RGD ID:6785799
Promoter ID:HG_KWN:5536
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_178229,   OTTHUMT00000080658,   UC009WSB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,808,694 - 154,809,194 (-)MPROMDB
RGD ID:6857594
Promoter ID:EPDNEW_H1962
Type:initiation region
Name:IQGAP3_2
Description:IQ motif containing GTPase activating protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1965  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,572,550 - 156,572,610EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20669 AgrOrtholog
COSMIC IQGAP3 COSMIC
Ensembl Genes ENSG00000183856 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291754 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361170 ENTREZGENE
  ENST00000361170.7 UniProtKB/Swiss-Prot
  ENST00000491900.1 UniProtKB/TrEMBL
  ENST00000708577.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183856 GTEx
  ENSG00000291754 GTEx
HGNC ID HGNC:20669 ENTREZGENE
Human Proteome Map IQGAP3 Human Proteome Map
InterPro CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGAP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGAP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:128239 UniProtKB/Swiss-Prot
NCBI Gene 128239 ENTREZGENE
PANTHER RAS GTPASE-ACTIVATING PROTEIN WITH IQ MOTIF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS GTPASE-ACTIVATING-LIKE PROTEIN IQGAP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGAP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134954177 PharmGKB
PROSITE PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS_GTPASE_ACTIV_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS_GTPASE_ACTIV_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RasGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RGC domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRC9 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2E2_HUMAN UniProtKB/TrEMBL
  IQGA3_HUMAN UniProtKB/Swiss-Prot
  Q5T3H8 ENTREZGENE
  Q86VI3 ENTREZGENE
UniProt Secondary Q5T3H8 UniProtKB/Swiss-Prot