Descriptions

Gαi1 is a G-protein alpha subunit that plays a crucial role in signal transduction pathway initiated by G-protein-coupled receptor (GPCR) activation. G proteins function as transducers downstream of GPCRs in numerous signaling cascades. The alpha subunit contains the guanine nucleotide binding site and alternates between an active (GTP-bound state) and an inactive (GDP-bound state). Activated GPCR induces conformational change in Gαi1, which allows for GDP-to-GTP exchange by binding to the GPCR-binding site within a Ras-like domain, leading to dissociation of the Gαi1 subunit and initiation of downstream signaling.

Autoinhibitory domains (AIDs)

Target domain

189-353 (Ras-like domain)

Relief mechanism

Ligand binding, Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for P29992

Entry ID Method Resolution Chain Position Source
6OIJ EM 330 A A 36-359 PDB
7RKF EM 400 A A 25-359 PDB
7TRY EM 370 A A 25-359 PDB
AF-P29992-F1 Predicted AlphaFoldDB

978 variants for P29992

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000857316
rs200234790
32 D>G Familial hypocalciuric hypercalcemia 2 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1335558363
RCV001706737
54 T>M Familial hypocalciuric hypercalcemia 2 [ClinVar] Yes ClinVar
dbSNP
gnomAD
VAR_070165
CA144607
RCV002504951
rs587777021
RCV000054478
RCV001853077
60 R>C Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2 HYPOC2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA170731
RCV000144048
rs587777707
60 R>L Autosomal dominant hypocalcemia 2 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs756991534
RCV002480772
RCV001236129
96 T>M Variant assessed as Somatic; MODERATE impact. Familial hypocalciuric hypercalcemia 2 [NCI-TCGA, ClinVar] Yes ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA144604
rs587777019
VAR_070166
RCV000054475
135 L>Q Familial hypocalciuric hypercalcemia 2 HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs587777020
CA144605
RCV002514274
VAR_070167
RCV000054476
181 R>Q Autosomal dominant hypocalcemia 2 HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002254302
RCV000662311
RCV001526637
RCV001526569
RCV001706699
rs1555702147
COSM21651
183 R>C eye Lobular capillary hemangiomas Capillary malformation CLOVES syndrome Variant assessed as Somatic; MODERATE impact. skin [Cosmic, ClinVar, NCI-TCGA] Yes NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV002486585
rs768371546
RCV001989592
198 N>H Familial hypocalciuric hypercalcemia 2 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_070168
CA144602
rs672601249
RCV000054474
200 I>missing Familial hypocalciuric hypercalcemia 2 HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
VAR_070168
rs672601249
200 I>del HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations [UniProt] Yes UniProt
dbSNP
RCV000444127
RCV002254297
CA16602475
RCV000425425
RCV000437415
COSM52969
rs1057519742
RCV003128401
209 Q>L eye Variant assessed as Somatic; MODERATE impact. Melanoma skin Uveal melanoma meninges Malignant melanoma of skin [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000432719
RCV000425941
COSM52970
rs1057519742
CA16602474
209 Q>P eye Melanoma Uveal melanoma meninges [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
RCV000054479
VAR_070169
CA144608
rs587777022
211 S>W Autosomal dominant hypocalcemia 2 HYPOC2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
rs144829732
RCV001320866
RCV002493677
COSM4076641
269 V>I Variant assessed as Somatic; MODERATE impact. Familial hypocalciuric hypercalcemia 2 [NCI-TCGA, ClinVar] Yes NCI-TCGA Cosmic
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs140749796
VAR_070170
RCV000054477
CA144606
341 F>L Autosomal dominant hypocalcemia 2 HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations [ClinVar, UniProt] Yes ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
UniProt
dbSNP
rs2145300227 2 T>A No Ensembl
rs1417344175 2 T>I No gnomAD
rs1913317207 3 L>P No Ensembl
rs2145300247 4 E>G No Ensembl
rs2145300242 4 E>Q No Ensembl
rs2145300247 4 E>V No Ensembl
rs2145300250 5 S>A No Ensembl
rs1913317498 6 M>I No Ensembl
rs1387105467 6 M>L No TOPMed
gnomAD
rs1599293107 6 M>T No Ensembl
rs1387105467 6 M>V No TOPMed
gnomAD
rs1401199158 7 M>R No gnomAD
rs1401199158 7 M>T No gnomAD
rs1913317570 7 M>V No Ensembl
rs1913317685 8 A>P No TOPMed
RCV001934609
rs141078172
8 A>V No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2145300277 9 C>G No Ensembl
rs2145300285 9 C>W No Ensembl
rs2145300284 9 C>Y No Ensembl
rs2145300289 10 C>* No Ensembl
rs2145300289 10 C>W No Ensembl
rs1913317841 11 L>V No TOPMed
rs2145300305 12 S>G No Ensembl
rs1913317982 13 D>G No TOPMed
gnomAD
rs1338184866 14 E>G No gnomAD
rs1913318065 14 E>Q No TOPMed
rs2145300320 15 V>E No Ensembl
rs2145300320 15 V>G No Ensembl
rs1913318349 18 S>C No Ensembl
rs1242029660 20 R>W No gnomAD
rs2145300340 21 I>S No Ensembl
rs2145300347 23 A>T No Ensembl
rs1913318572 24 E>V No TOPMed
rs1479867877 28 Q>* No TOPMed
rs1479867877 28 Q>K No TOPMed
rs1913318778 30 R>L No TOPMed
COSM3932990
rs2145300360
30 R>W urinary_tract [Cosmic] No cosmic curated
Ensembl
rs1599293133 31 R>W No TOPMed
rs1913318982 32 D>Y No TOPMed
gnomAD
rs1913319191 34 R>C No Ensembl
rs1913319191 34 R>G No Ensembl
rs2145300391 35 D>G No Ensembl
rs2145300387 35 D>N No Ensembl
rs773203722 36 A>S No ExAC
gnomAD
rs773203722 36 A>T No ExAC
gnomAD
rs2145300399 36 A>V No Ensembl
rs1486864119 37 R>L No TOPMed
gnomAD
rs1486864119 37 R>Q No TOPMed
gnomAD
rs2145300421 39 E>Q No Ensembl
rs1342252945 42 L>V No TOPMed
rs1007210976 45 L>I No Ensembl
TCGA novel 45 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2145315422 46 G>D No Ensembl
rs762714189 47 T>M No ExAC
gnomAD
rs1913735988 49 E>K No TOPMed
rs1913736061
RCV001206089
50 S>N No ClinVar
Ensembl
dbSNP
rs377224539
RCV001212608
51 G>R No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2145315453 53 S>N No Ensembl
rs2145315466 55 F>I No Ensembl
COSM4827188 56 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755993488 56 I>T No ExAC
gnomAD
rs2145315478 58 Q>* No Ensembl
rs1913736679 59 M>T No Ensembl
rs1913736617 59 M>V No TOPMed
rs587777707 60 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2145315498 61 I>N No Ensembl
rs2145315515 64 G>D No Ensembl
rs1477351940 64 G>R No TOPMed
gnomAD
rs1477351940 64 G>S No TOPMed
gnomAD
rs2145315515 64 G>V No Ensembl
rs147528229 65 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000889157
rs147528229
CA159920
RCV000121154
65 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs868681560 66 G>D No Ensembl
COSM178570
rs1163458352
66 G>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1913737726 68 S>L No gnomAD
rs916041207 70 E>* No TOPMed
rs140301317
RCV001893620
73 R>C No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs140301317 73 R>G No ESP
ExAC
TOPMed
gnomAD
rs769019097 73 R>H No ExAC
gnomAD
rs769019097 73 R>L No ExAC
gnomAD
rs769019097 73 R>P No ExAC
gnomAD
rs2145315565 74 G>D No Ensembl
rs777092144 74 G>S No ExAC
TOPMed
gnomAD
rs1391411006 76 T>I No Ensembl
rs1671522857
RCV001201717
77 K>R No ClinVar
Ensembl
dbSNP
rs1232791367 78 L>I No gnomAD
rs2145315595 79 V>D No Ensembl
rs777099166
RCV001996464
79 V>I No ClinVar
ExAC
dbSNP
gnomAD
rs2145315597
RCV002050632
80 Y>* No ClinVar
Ensembl
dbSNP
rs1402723163 81 Q>R No TOPMed
rs2145315609 82 N>K No Ensembl
rs1487847863 83 I>V No gnomAD
rs74913870 84 F>S No Ensembl
rs1599302109 85 T>P No Ensembl
rs374089777 86 A>P No ESP
TOPMed
gnomAD
rs374089777 86 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs2145315643 87 M>I No Ensembl
rs1475313918 87 M>V No TOPMed
gnomAD
rs1913739644 88 Q>* No gnomAD
rs1913739644 88 Q>E No gnomAD
rs2145315653 89 A>D No Ensembl
rs760710011 89 A>T No ExAC
gnomAD
rs941191833 92 R>L No TOPMed
gnomAD
rs941191833 92 R>Q No TOPMed
gnomAD
RCV001890163
rs753693838
92 R>W No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2145315677 93 A>P No Ensembl
rs2145315685 93 A>V No Ensembl
rs975342398 94 M>V No TOPMed
rs1456020858 95 E>D No TOPMed
gnomAD
rs1297795462 95 E>G No Ensembl
rs1380208656 96 T>A No gnomAD
rs1380208656 96 T>S No gnomAD
rs2145315708 97 L>H No Ensembl
rs2145315708 97 L>P No Ensembl
rs1913740506 98 K>Q No TOPMed
rs1376341794 98 K>R No TOPMed
gnomAD
rs758603549 103 Y>* No ExAC
TOPMed
gnomAD
rs2145315725 103 Y>D No Ensembl
rs1913740780 104 E>K No TOPMed
rs1913740843 105 Q>H No TOPMed
gnomAD
rs1306652036 106 N>S No gnomAD
rs1051216341 107 K>M No Ensembl
COSM994453 108 A>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2145318412 108 A>D No Ensembl
rs2145318412 108 A>G No Ensembl
rs2145318411 108 A>P No Ensembl
rs2145318411 108 A>T No Ensembl
rs2145318412 108 A>V No Ensembl
rs751665166 109 N>I No ExAC
TOPMed
gnomAD
rs751665166 109 N>S No ExAC
TOPMed
gnomAD
rs759791665 110 A>E No ExAC
gnomAD
rs759791665 110 A>V No ExAC
gnomAD
rs2145318433 111 L>I No Ensembl
rs2145318442 112 L>P No Ensembl
rs2145318442 112 L>Q No Ensembl
rs752795403 112 L>V No ExAC
TOPMed
gnomAD
rs2145318451 113 I>F No Ensembl
rs2145318459 113 I>M No Ensembl
rs2145318454 113 I>S No Ensembl
rs2145318451 113 I>V No Ensembl
rs1215008332 114 R>G No TOPMed
gnomAD
rs541350337 114 R>L No ExAC
TOPMed
gnomAD
rs541350337 114 R>P No ExAC
TOPMed
gnomAD
rs541350337 114 R>Q No ExAC
TOPMed
gnomAD
COSM3822624
rs1215008332
114 R>W Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1197262629 115 E>D No TOPMed
gnomAD
rs2145318481 115 E>G No Ensembl
rs1451507571 115 E>K No gnomAD
rs1451507571 115 E>Q No gnomAD
rs2145318481 115 E>V No Ensembl
rs1913825787 116 V>L No Ensembl
rs1913825787 116 V>M No Ensembl
rs778378225 117 D>E No ExAC
TOPMed
gnomAD
rs2145318497 117 D>G No Ensembl
rs1368778199 117 D>H No TOPMed
gnomAD
rs1368778199 117 D>N No TOPMed
gnomAD
rs2145318497 117 D>V No Ensembl
rs1368778199 117 D>Y No TOPMed
gnomAD
rs754271296 118 V>L No ExAC
TOPMed
gnomAD
rs754271296 118 V>M No ExAC
TOPMed
gnomAD
rs2145318530 119 E>G No Ensembl
rs2145318525 119 E>K No Ensembl
rs2145318530 119 E>V No Ensembl
rs2145318536 120 K>E No Ensembl
rs2145318537 120 K>M No Ensembl
rs1913826360 120 K>N No Ensembl
rs2145318537 120 K>R No Ensembl
rs2145318550 121 V>A No Ensembl
rs2145318550 121 V>E No Ensembl
rs2145318550 121 V>G No Ensembl
rs2145318547 121 V>L No Ensembl
rs2145318561 122 T>A No Ensembl
rs1308091091 122 T>I No Ensembl
rs1308091091 122 T>S No Ensembl
rs2145318569 123 T>A No Ensembl
rs879188402 123 T>I No TOPMed
rs879188402 123 T>S No TOPMed
rs2145318569 123 T>S No Ensembl
rs559730941 124 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1170008066 125 E>* No TOPMed
gnomAD
rs1165709212 125 E>D No gnomAD
rs2145318587 125 E>G No Ensembl
rs1170008066 125 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1170008066 125 E>Q No TOPMed
gnomAD
rs2145318587 125 E>V No Ensembl
rs746693359 126 H>L No ExAC
gnomAD
rs2145318599 126 H>N No Ensembl
rs1913827194 126 H>Q No TOPMed
rs746693359 126 H>R No ExAC
gnomAD
rs2145318599 126 H>Y No Ensembl
rs2145318610 127 Q>* No Ensembl
rs2145318621 127 Q>H No Ensembl
rs2145318614 127 Q>L No Ensembl
rs2145318614 127 Q>R No Ensembl
rs531521209 128 Y>* No ExAC
TOPMed
gnomAD
rs2145318631 128 Y>C No Ensembl
rs2145318624 128 Y>D No Ensembl
rs2145318631 128 Y>F No Ensembl
rs2145318624 128 Y>N No Ensembl
rs2145318647 129 V>A No Ensembl
rs2145318647 129 V>D No Ensembl
rs2145318647 129 V>G No Ensembl
rs780718032 129 V>I No ExAC
TOPMed
gnomAD
rs780718032 129 V>L No ExAC
TOPMed
gnomAD
rs2145318655 130 S>C No Ensembl
rs2145318655 130 S>G No Ensembl
rs2145318662 130 S>N No Ensembl
rs2145318668 130 S>R No Ensembl
rs2145318662 130 S>T No Ensembl
rs2145318672 131 A>G No Ensembl
rs2145318669 131 A>P No Ensembl
rs2145318669 131 A>T No Ensembl
rs2145318672 131 A>V No Ensembl
rs2145318679 132 I>F No Ensembl
rs2145318686
COSM1524860
132 I>M lung [Cosmic] No cosmic curated
Ensembl
rs2145318683 132 I>N No Ensembl
rs2145318683 132 I>S No Ensembl
COSM710493
rs2145318679
132 I>V lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1568282988 133 K>* No Ensembl
rs1568282988 133 K>E No Ensembl
rs2145318695 133 K>M No Ensembl
rs2145318699 133 K>N No Ensembl
rs371712160 134 T>I No ESP
gnomAD
rs371712160 134 T>N No ESP
gnomAD
rs2145318702 134 T>S No Ensembl
rs371712160 134 T>S No ESP
gnomAD
rs2145318713 135 L>M No Ensembl
rs587777019 135 L>P No Ensembl
rs2145318713 135 L>V No Ensembl
rs2145318722 136 W>* No Ensembl
rs2145318722 136 W>C No Ensembl
rs2145318732 137 E>G No Ensembl
rs773074121 137 E>K No ExAC
gnomAD
rs773074121 137 E>Q No ExAC
gnomAD
rs2145318732 137 E>V No Ensembl
rs2145318748 138 D>A No Ensembl
rs762810586 138 D>E No ExAC
gnomAD
rs2145318748 138 D>G No Ensembl
rs2145318744 138 D>H No Ensembl
rs2145318744 138 D>N No Ensembl
rs2145318748 138 D>V No Ensembl
rs2145318744 138 D>Y No Ensembl
rs2145318759 139 P>A No Ensembl
rs1173495934 139 P>L No TOPMed
rs1173495934 139 P>Q No TOPMed
rs1173495934 139 P>R No TOPMed
rs2145318759 139 P>S No Ensembl
rs2145318759 139 P>T No Ensembl
rs2145318772 140 G>A No Ensembl
rs2145318772 140 G>D No Ensembl
rs1913828034 140 G>R No TOPMed
rs1913828034 140 G>S No TOPMed
rs2145318784 141 I>F No Ensembl
rs2145318791 141 I>M No Ensembl
rs1913828183 141 I>T No Ensembl
rs2145318784 141 I>V No Ensembl
rs2145318796 142 Q>* No Ensembl
rs2145318796 142 Q>E No Ensembl
rs2145318801 142 Q>H No Ensembl
rs2145318796 142 Q>K No Ensembl
rs2145318800 142 Q>L No Ensembl
rs2145318805 143 E>* No Ensembl
rs2145318805 143 E>Q No Ensembl
rs2145318821 144 C>F No Ensembl
rs2145318812 144 C>G No Ensembl
rs2145318821 144 C>S No Ensembl
rs2145318812 144 C>S No Ensembl
rs2145318824 144 C>W No Ensembl
rs2145318821 144 C>Y No Ensembl
rs759718861 145 Y>* No ExAC
TOPMed
gnomAD
rs2145318829 145 Y>C No Ensembl
rs2145318829 145 Y>F No Ensembl
rs2145318826 145 Y>H No Ensembl
rs2145318826 145 Y>N No Ensembl
rs2145318829 145 Y>S No Ensembl
rs2145318839 146 D>E No Ensembl
rs778757346 146 D>H No TOPMed
gnomAD
rs778757346 146 D>N No TOPMed
gnomAD
COSM2750391
rs767809613
147 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs767809613 147 R>G No ExAC
gnomAD
rs1035292287
COSM474501
147 R>H kidney [Cosmic] No cosmic curated
gnomAD
rs1035292287 147 R>L No gnomAD
rs1035292287 147 R>P No gnomAD
rs767809613 147 R>S No ExAC
gnomAD
rs1261353288 148 R>G No gnomAD
rs2145318861
TCGA novel
148 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2145318863 148 R>S No Ensembl
rs2145318861 148 R>T No Ensembl
rs1261353288 148 R>W No gnomAD
rs1913828735 149 R>C No TOPMed
rs1913828735 149 R>G No TOPMed
TCGA novel
rs1913828804
149 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1913828804 149 R>P No gnomAD
rs1181395352 150 E>D No TOPMed
gnomAD
rs752848608 150 E>K No ExAC
gnomAD
rs752848608 150 E>Q No ExAC
gnomAD
rs2145318881 150 E>V No Ensembl
rs2145318891 151 Y>* No Ensembl
rs2145318886 151 Y>D No Ensembl
rs2145318886 151 Y>H No Ensembl
rs2145318886 151 Y>N No Ensembl
rs2145318893 152 Q>* No Ensembl
rs760781651 152 Q>H No ExAC
gnomAD
rs2145318893 152 Q>K No Ensembl
rs2145318895 152 Q>L No Ensembl
rs2145318895 152 Q>R No Ensembl
rs2145318910 153 L>H No Ensembl
rs2145318910 153 L>P No Ensembl
rs2145318906 153 L>V No Ensembl
rs2145318925
TCGA novel
154 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2145318925 154 S>F No Ensembl
rs2145318917 154 S>P No Ensembl
rs2145318917 154 S>T No Ensembl
rs779191241 155 D>N No ExAC
TOPMed
gnomAD
rs2145318934 156 S>F No Ensembl
rs2145318943 157 A>D No Ensembl
rs2145318943 157 A>G No Ensembl
rs2145318940 157 A>P No Ensembl
rs2145318940 157 A>T No Ensembl
rs2145318943 157 A>V No Ensembl
rs750766195 158 K>* No ExAC
gnomAD
rs750766195 158 K>E No ExAC
gnomAD
rs754616176 158 K>N No ExAC
gnomAD
rs1469665156 159 Y>* No gnomAD
rs2145318957 159 Y>D No Ensembl
rs2145318957 159 Y>H No Ensembl
rs2145318957 159 Y>N No Ensembl
rs2145320665 160 Y>* No Ensembl
rs2145320660 160 Y>C No Ensembl
rs2145320660 160 Y>F No Ensembl
rs2145320651 160 Y>H No Ensembl
rs2145320651 160 Y>N No Ensembl
rs2145320660 160 Y>S No Ensembl
rs2145320674 162 T>A No Ensembl
rs1913871468 162 T>I No TOPMed
rs2145320674 162 T>P No Ensembl
rs2145320674 162 T>S No Ensembl
rs1913871468 162 T>S No TOPMed
rs2145320692 163 D>A No Ensembl
rs141926949 163 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2145320692 163 D>G No Ensembl
rs2145320689 163 D>H No Ensembl
rs2145320689 163 D>N No Ensembl
rs2145320692 163 D>V No Ensembl
rs2145320703 164 V>A No Ensembl
rs2145320703 164 V>D No Ensembl
COSM1208385
rs2145320703
164 V>G large_intestine [Cosmic] No cosmic curated
Ensembl
rs775624350
COSM1392332
164 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775624350 164 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs2145320713 165 D>A No Ensembl
rs2145320721 165 D>E No Ensembl
rs2145320713 165 D>G No Ensembl
rs2145320708 165 D>H No Ensembl
rs2145320708 165 D>N No Ensembl
rs2145320713 165 D>V No Ensembl
rs2145320708 165 D>Y No Ensembl
rs2145320726 166 R>C No Ensembl
rs2145320726 166 R>G No Ensembl
rs2145320729 166 R>H No Ensembl
rs2145320729 166 R>L No Ensembl
rs2145320729 166 R>P No Ensembl
rs2145320726 166 R>S No Ensembl
rs2145320739 167 I>F No Ensembl
rs2145320739 167 I>L No Ensembl
rs756722832 167 I>M No ExAC
TOPMed
gnomAD
rs2145320747 168 A>G No Ensembl
rs1913871940 168 A>S No TOPMed
RCV001954868
rs1913871940
168 A>T No ClinVar
TOPMed
dbSNP
rs2145320747 168 A>V No Ensembl
rs2145320757 169 T>I No Ensembl
rs2145320754 169 T>P No Ensembl
rs2145320754 169 T>S No Ensembl
rs2145320757 169 T>S No Ensembl
rs2145320766 170 L>F No Ensembl
RCV001431863
rs191421665
170 L>M No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2145320779 171 G>A No Ensembl
rs2145320776 171 G>C No Ensembl
rs2145320779 171 G>D No Ensembl
rs2145320776 171 G>R No Ensembl
TCGA novel
rs2145320776
171 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2145320779 171 G>V No Ensembl
RCV001876746
rs1568283562
172 Y>* No Ensembl
ClinVar
dbSNP
rs2145320795 173 L>M No Ensembl
rs2145320802 173 L>P No Ensembl
rs2145320802 173 L>Q No Ensembl
rs2145320795 173 L>V No Ensembl
rs2145320807 174 P>A No Ensembl
rs2145320809 174 P>H No Ensembl
rs2145320809 174 P>L No Ensembl
rs2145320809 174 P>R No Ensembl
rs2145320807 174 P>S No Ensembl
rs2145320807 174 P>T No Ensembl
rs2145320826 175 T>I No Ensembl
rs2145320826 175 T>N No Ensembl
rs2145320817 175 T>S No Ensembl
rs2145320826 175 T>S No Ensembl
rs2145320834 176 Q>* No Ensembl
rs2145320834 176 Q>E No Ensembl
rs2145320843 176 Q>H No Ensembl
rs2145320834 176 Q>K No Ensembl
rs2145320839 176 Q>L No Ensembl
rs2145320847 177 Q>* No Ensembl
rs2145320847 177 Q>E No Ensembl
rs2145320853 177 Q>H No Ensembl
rs2145320847 177 Q>K No Ensembl
rs2145320849 177 Q>L No Ensembl
rs2145320849 177 Q>R No Ensembl
rs2145320860 178 D>A No Ensembl
rs146295413 178 D>E No ESP
ExAC
TOPMed
gnomAD
rs2145320860 178 D>G No Ensembl
rs2145320855 178 D>H No Ensembl
rs2145320855 178 D>N No Ensembl
rs2145320860 178 D>V No Ensembl
rs2145320874 179 V>A No Ensembl
rs2145320874 179 V>E No Ensembl
rs2145320874 179 V>G No Ensembl
rs2145320870 179 V>L No Ensembl
rs2145320870 179 V>M No Ensembl
rs2145320884 180 L>M No Ensembl
rs2145320889 180 L>P No Ensembl
rs2145320889 180 L>Q No Ensembl
rs2145320884 180 L>V No Ensembl
rs1391552100 181 R>G No TOPMed
gnomAD
rs587777020 181 R>L No Ensembl
rs1391552100 181 R>W No TOPMed
gnomAD
rs2145320919 182 V>A No Ensembl
rs2145320919 182 V>D No Ensembl
rs2145320909 182 V>F No Ensembl
rs2145320919 182 V>G No Ensembl
rs2145320909 182 V>I No Ensembl
rs2145320909 182 V>L No Ensembl
rs2145320931 183 R>C No Ensembl
rs1555702147 183 R>G No Ensembl
rs1913872981
COSM52973
183 R>H skin [Cosmic] No cosmic curated
Ensembl
COSM1392333
rs1913872981
183 R>L large_intestine [Cosmic] No cosmic curated
Ensembl
rs1913872981 183 R>P No Ensembl
rs1555702147 183 R>S No Ensembl
rs2145320960 184 V>A No Ensembl
rs2145320960 184 V>E No Ensembl
rs2145320960 184 V>G No Ensembl
rs2145320950 184 V>L No Ensembl
COSM6038089
rs2145320950
184 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2145320965 185 P>A No Ensembl
rs2145320983 186 T>N No Ensembl
rs2145320979 186 T>S No Ensembl
rs2145320983 186 T>S No Ensembl
rs2145321000 187 T>A No Ensembl
rs1867306467 187 T>I No TOPMed
rs1867306467 187 T>N No TOPMed
rs2145321000 187 T>P No Ensembl
rs1867306467 187 T>S No TOPMed
rs2145321000 187 T>S No Ensembl
rs2145321022 188 G>A No Ensembl
rs2145321018 188 G>C No Ensembl
rs2145321022 188 G>D No Ensembl
rs2145321018 188 G>R No Ensembl
rs2145321018 188 G>S No Ensembl
rs2145321022 188 G>V No Ensembl
rs2145321032 189 I>F No Ensembl
rs2145321032 189 I>L No Ensembl
rs1913873393 189 I>M No TOPMed
rs2145321040 189 I>N No Ensembl
rs2145321040 189 I>S No Ensembl
rs2145321040 189 I>T No Ensembl
rs2145321032 189 I>V No Ensembl
rs1913873486 190 I>F No TOPMed
rs1913873486 190 I>L No TOPMed
rs2145321061 190 I>N No Ensembl
rs2145321061 190 I>S No Ensembl
rs2145321061 190 I>T No Ensembl
rs1913873486 190 I>V No TOPMed
rs748179180 191 E>D No ExAC
gnomAD
rs2145321073 191 E>G No Ensembl
CA403308094
RCV000518852
rs1317391449
191 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
rs2145321073 191 E>V No Ensembl
rs2145321091 192 Y>* No Ensembl
rs2145321080 192 Y>D No Ensembl
rs2145321088 192 Y>F No Ensembl
rs2145321080 192 Y>H No Ensembl
rs2145321080 192 Y>N No Ensembl
rs1913873977 193 P>A No TOPMed
gnomAD
rs2145321104 193 P>L No Ensembl
rs2145321104 193 P>R No Ensembl
rs1913873977 193 P>S No TOPMed
gnomAD
rs1913873977 193 P>T No TOPMed
gnomAD
rs1913874066 194 F>I No Ensembl
rs902387291 194 F>L No TOPMed
gnomAD
rs1913874066 194 F>L No Ensembl
rs2145321114 194 F>Y No Ensembl
rs1913874281 195 D>A No Ensembl
rs2145321133 195 D>E No Ensembl
rs1913874281 195 D>G No Ensembl
rs769982397 195 D>H No ExAC
TOPMed
gnomAD
rs769982397 195 D>N No ExAC
TOPMed
gnomAD
rs1913874281 195 D>V No Ensembl
rs769982397 195 D>Y No ExAC
TOPMed
gnomAD
rs1210308648 196 L>M No gnomAD
rs1210308648 196 L>V No gnomAD
rs2145321155 197 E>D No Ensembl
rs1913874470 197 E>G No TOPMed
rs1913874470 197 E>V No TOPMed
rs1431166394 198 N>I No gnomAD
rs2145321165 198 N>K No Ensembl
rs1431166394 198 N>S No gnomAD
rs1431166394 198 N>T No gnomAD
rs768371546 198 N>Y No ExAC
TOPMed
gnomAD
rs2145321172 199 I>F No Ensembl
rs2145321172 199 I>L No Ensembl
rs2145321181 199 I>M No Ensembl
rs2145321176 199 I>N No Ensembl
rs2145321176 199 I>S No Ensembl
rs2145321176 199 I>T No Ensembl
rs2145321190 200 I>F No Ensembl
rs2145321190 200 I>L No Ensembl
rs527451247 200 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs2145321199 200 I>N No Ensembl
rs2145321199 200 I>T No Ensembl
rs2145321212 201 F>I No Ensembl
rs1913875017 201 F>L No TOPMed
rs2145321215 201 F>Y No Ensembl
rs2145321228 202 R>G No Ensembl
rs2145321233 202 R>L No Ensembl
rs2145321233 202 R>P No Ensembl
rs2145321233 202 R>Q No Ensembl
rs2145321228 202 R>W No Ensembl
COSM3532097
rs766426049
203 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2145325885 204 V>G No Ensembl
rs2145325878 204 V>L No Ensembl
rs2145325878 204 V>M No Ensembl
rs2145325910 205 D>E No Ensembl
rs2145325904 205 D>G No Ensembl
rs2145325897 205 D>H No Ensembl
rs2145325897 205 D>N No Ensembl
rs2145325904 205 D>V No Ensembl
rs2145325897 205 D>Y No Ensembl
rs1913993801 206 V>L No Ensembl
rs1913993801 206 V>M No Ensembl
rs2145325931 207 G>A No Ensembl
rs2145325927 207 G>R No Ensembl
rs2145325931 207 G>V No Ensembl
rs2145325927 207 G>W No Ensembl
rs2145325949 208 G>A No Ensembl
COSM1392334 208 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2145325949 208 G>D No Ensembl
rs2145325942 208 G>R No Ensembl
rs2145325942 208 G>S No Ensembl
rs2145325949 208 G>V No Ensembl
COSM1392335
rs2145325959
209 Q>* large_intestine [Cosmic] No cosmic curated
Ensembl
rs2145325959 209 Q>E No Ensembl
COSM1717778
rs2145325982
209 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
COSM238583
rs2145325959
209 Q>K prostate [Cosmic] No cosmic curated
Ensembl
RCV002254467
rs1057519742
COSM1666996
209 Q>R eye Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
rs767395295 210 R>G No ExAC
TOPMed
gnomAD
rs2145325989 210 R>P No Ensembl
rs2145325989 210 R>Q No Ensembl
rs767395295 210 R>W No ExAC
TOPMed
gnomAD
rs587777022 211 S>* No ExAC
gnomAD
rs587777022 211 S>L No ExAC
gnomAD
rs2145326000 211 S>P No Ensembl
rs2145326000 211 S>T No Ensembl
rs2145326016 212 E>* No Ensembl
rs2145326021 212 E>G No Ensembl
rs2145326016 212 E>K No Ensembl
rs2145326016 212 E>Q No Ensembl
rs2145326021 212 E>V No Ensembl
rs2145326034 213 R>P No Ensembl
rs2145326034 213 R>Q No Ensembl
rs777912441 213 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2145326046 214 R>G No Ensembl
rs2145326050 214 R>K No Ensembl
rs2145326050 214 R>M No Ensembl
rs749372899 214 R>S No ExAC
gnomAD
rs2145326046 214 R>W No Ensembl
rs2145326057 215 K>E No Ensembl
rs2145326065 215 K>M No Ensembl
RCV001948613
rs1913995254
215 K>N No ClinVar
Ensembl
dbSNP
rs2145326057 215 K>Q No Ensembl
rs2145326065 215 K>R No Ensembl
rs2145326079 216 W>* No Ensembl
rs2145326076 216 W>* No Ensembl
rs2145326079 216 W>C No Ensembl
rs1913995370 216 W>G No Ensembl
RCV001754726
rs1913995370
216 W>R No ClinVar
Ensembl
dbSNP
rs2145326082 217 I>F No Ensembl
rs2145326082 217 I>L No Ensembl
rs2145326087 217 I>M No Ensembl
rs2145326082 217 I>V No Ensembl
rs2145326097 218 H>D No Ensembl
rs2145326102 218 H>L No Ensembl
rs2145326097 218 H>N No Ensembl
rs2145326105 218 H>Q No Ensembl
rs2145326119 219 C>F No Ensembl
rs2145326111 219 C>S No Ensembl
rs2145326119 219 C>S No Ensembl
rs2145326119 219 C>Y No Ensembl
rs2145326123 220 F>I No Ensembl
rs2145326128
RCV001917878
220 F>S No ClinVar
Ensembl
dbSNP
rs2145326128 220 F>Y No Ensembl
rs2145326135 221 E>* No Ensembl
rs757393272 221 E>D No ExAC
TOPMed
gnomAD
rs2145326142 221 E>G No Ensembl
rs2145326135 221 E>K No Ensembl
rs2145326135
COSM3822626
221 E>Q Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2145326142 221 E>V No Ensembl
rs2145326154 222 N>D No Ensembl
rs2145326159 222 N>I No Ensembl
rs754620313 222 N>K No TOPMed
gnomAD
rs2145326159 222 N>S No Ensembl
rs2145326159 222 N>T No Ensembl
rs2145326154 222 N>Y No Ensembl
rs2145326170 223 V>E No Ensembl
rs2145326170 223 V>G No Ensembl
rs778948783 223 V>L No ExAC
TOPMed
gnomAD
COSM51687
rs778948783
223 V>M skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2145326180 224 T>I No Ensembl
rs2145326180 224 T>K No Ensembl
rs2145326180 224 T>R No Ensembl
rs2145326186 225 S>C No Ensembl
rs2145326186 225 S>F No Ensembl
rs2145326186 225 S>Y No Ensembl
rs2145326191 226 I>F No Ensembl
rs2145326191 226 I>L No Ensembl
rs371149978 226 I>M No ESP
ExAC
TOPMed
gnomAD
rs2145326197 226 I>N No Ensembl
rs2145326197 226 I>S No Ensembl
rs2145326197 226 I>T No Ensembl
rs2145326213 227 M>K No Ensembl
rs2145326210 227 M>L No Ensembl
rs2145326213 227 M>T No Ensembl
rs2145326220 228 F>I No Ensembl
rs2145326220 228 F>L No Ensembl
rs2145326227 228 F>L No Ensembl
rs2145326225 228 F>S No Ensembl
rs2145326225 228 F>Y No Ensembl
rs2145326232 229 L>F No Ensembl
rs2145326236 229 L>H No Ensembl
rs2145326232 229 L>I No Ensembl
TCGA novel
rs2145326232
229 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2145326249 230 V>A No Ensembl
rs2145326249 230 V>D No Ensembl
rs2145326249 230 V>G No Ensembl
rs1309810840 230 V>I No TOPMed
gnomAD
rs1309810840 230 V>L No TOPMed
gnomAD
rs769503200 231 A>P No ExAC
gnomAD
rs769503200 231 A>S No ExAC
gnomAD
COSM5513428
rs769503200
231 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2145326267 232 L>F No Ensembl
rs2145326270 232 L>H No Ensembl
rs2145326267 232 L>I No Ensembl
rs2145326270 232 L>P No Ensembl
rs2145326267 232 L>V No Ensembl
rs2145326281 233 S>G No Ensembl
rs2145326286 233 S>I No Ensembl
rs2145326286 233 S>N No Ensembl
rs1220448139 233 S>R No TOPMed
rs2145326286 233 S>T No Ensembl
rs2145326296 234 E>* No Ensembl
rs2096726116 234 E>D No Ensembl
rs2145326296 234 E>K No Ensembl
rs2145326296 234 E>Q No Ensembl
rs2145326300 234 E>V No Ensembl
COSM117887
rs138168314
235 Y>* ovary [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2145326314 235 Y>C No Ensembl
rs2145326314 235 Y>F No Ensembl
rs2145326308 235 Y>N No Ensembl
rs2145326314 235 Y>S No Ensembl
rs1913997186 236 D>E No Ensembl
rs1568284925 236 D>G No Ensembl
rs2145326325 236 D>H No Ensembl
rs2145326325 236 D>N No Ensembl
rs1568284925 236 D>V No Ensembl
rs2145326325 236 D>Y No Ensembl
rs1913997296 237 Q>* No gnomAD
rs1913997296 237 Q>E No gnomAD
rs2145326347 237 Q>H No Ensembl
rs1913997296 237 Q>K No gnomAD
rs2145326344 237 Q>L No Ensembl
rs2145326357 238 V>D No Ensembl
rs2145326352 238 V>I No Ensembl
rs2145326352 238 V>L No Ensembl
rs2145326363 239 L>M No Ensembl
rs2145326363 239 L>V No Ensembl
rs1291813342 240 V>A No TOPMed
rs766046727 240 V>L No ExAC
gnomAD
rs766046727 240 V>M No ExAC
gnomAD
rs2145326380 241 E>* No Ensembl
rs2145326391 241 E>D No Ensembl
rs2145326386 241 E>G No Ensembl
rs2145326380 241 E>K No Ensembl
rs2145326380 241 E>Q No Ensembl
rs2145326386 241 E>V No Ensembl
rs1007967128 242 S>A No TOPMed
gnomAD
rs773976709 242 S>L No ExAC
gnomAD
rs1007967128 242 S>P No TOPMed
gnomAD
rs1007967128 242 S>T No TOPMed
gnomAD
rs773976709 242 S>W No ExAC
gnomAD
rs2145326422 243 D>E No Ensembl
rs767308128 243 D>G No ExAC
gnomAD
rs1295243293 243 D>H No TOPMed
gnomAD
rs1295243293 243 D>N No TOPMed
gnomAD
rs1295243293 243 D>Y No TOPMed
gnomAD
rs2145326428 244 N>I No Ensembl
rs752549242 244 N>K No ExAC
gnomAD
rs2145326428 244 N>S No Ensembl
rs2145326428 244 N>T No Ensembl
rs2145326425 244 N>Y No Ensembl
rs1913998229 245 E>* No Ensembl
rs1913998329 245 E>D No Ensembl
rs2145326437 245 E>G No Ensembl
rs1913998229
COSM4856803
245 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1913998229 245 E>Q No Ensembl
rs2145326437 245 E>V No Ensembl
rs1568285021 246 N>D No Ensembl
rs1914003795 246 N>K No Ensembl
rs1914003734 246 N>S No TOPMed
rs1208115313 247 R>Q No TOPMed
rs778362669 247 R>W No ExAC
gnomAD
TCGA novel 250 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs745528917
TCGA novel
250 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs2145326878 253 A>D No Ensembl
TCGA novel 253 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2145326878 253 A>V No Ensembl
TCGA novel 256 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs529942770
RCV001351660
256 R>P No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs529942770 256 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775040372
COSM13668
256 R>W skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1297128070 259 I>T No gnomAD
rs761542744 260 T>A No ExAC
gnomAD
rs1449570989 261 Y>C No TOPMed
gnomAD
rs765454337 263 W>C No ExAC
gnomAD
rs1914005297 265 Q>R No gnomAD
rs1914005484 266 N>K No gnomAD
rs1599307687 266 N>T No Ensembl
rs2145326944 267 S>F No Ensembl
COSM4076640 268 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4902024 268 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs144829732 269 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1471377402 270 I>V No gnomAD
rs1914005944 271 L>P No Ensembl
rs2145326975 273 L>H No Ensembl
rs2145326980
RCV001986651
274 N>S No ClinVar
Ensembl
dbSNP
rs2145326983 275 K>N No Ensembl
rs2145326992 277 D>E No Ensembl
rs2145326995 279 L>M No Ensembl
rs1161111839 280 E>D No TOPMed
rs1409264282 280 E>K No Ensembl
rs1444263678 281 D>A No gnomAD
rs2145327008 281 D>E No Ensembl
rs2145327016 283 I>V No Ensembl
rs1238030187 285 Y>H No gnomAD
COSM1582395
rs1914006634
286 S>L stomach [Cosmic] No cosmic curated
TOPMed
rs2145327043 287 H>L No Ensembl
rs2145327053 289 V>M No Ensembl
TCGA novel
rs2145327059
290 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs756612392 292 F>L No ExAC
gnomAD
COSM1325348 292 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1420026055 292 F>Y No gnomAD
rs1914007224
COSM3892222
293 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
TCGA novel 294 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745554999 294 E>K No ExAC
rs745554999 294 E>Q No ExAC
rs147368872 295 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1208131352 296 D>N No TOPMed
rs1914057553 297 G>A No Ensembl
rs2145327096 297 G>S No Ensembl
rs1259650887 298 P>L No TOPMed
gnomAD
rs1439859917 299 Q>P No gnomAD
rs919502623 300 R>Q No TOPMed
gnomAD
rs1461947710 300 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2145328797 301 D>G No Ensembl
rs139538868 302 A>T No ESP
ExAC
TOPMed
gnomAD
rs1914058249
RCV002019769
303 Q>E No ClinVar
TOPMed
dbSNP
rs1914058249 303 Q>K No TOPMed
rs762218250 304 A>E No ExAC
TOPMed
gnomAD
rs2145328805 304 A>T No Ensembl
rs762218250 304 A>V No ExAC
TOPMed
gnomAD
rs2145328824 305 A>E No Ensembl
rs2145328824 305 A>G No Ensembl
rs2145328819 305 A>T No Ensembl
rs2145328824 305 A>V No Ensembl
rs1914058676
COSM1524859
COSM6150641
306 R>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
TOPMed
rs1914058676 306 R>Q No TOPMed
rs1317335037 306 R>W No TOPMed
gnomAD
rs2145328837 307 E>* No Ensembl
rs928378285 307 E>G No TOPMed
rs2145328844 308 F>L No Ensembl
rs2145328841 308 F>L No Ensembl
rs2145328841 308 F>V No Ensembl
rs759218880 309 I>F No ExAC
gnomAD
rs2145328855 309 I>N No Ensembl
rs759218880 309 I>V No ExAC
gnomAD
rs767110044 310 L>P No ExAC
gnomAD
rs1914058930 311 K>E No TOPMed
rs2145328879 311 K>M No Ensembl
rs1914059041 312 M>I No gnomAD
rs1489377886 312 M>T No gnomAD
rs752162469 313 F>L No ExAC
TOPMed
gnomAD
rs772471502 314 V>L No TOPMed
gnomAD
rs772471502 314 V>M No TOPMed
gnomAD
rs2145328898 315 D>A No Ensembl
rs2145328902 315 D>E No Ensembl
rs2145328898 315 D>G No Ensembl
rs386352309
CA232204
RCV000122497
315 D>N No ClinGen
ClinVar
Ensembl
dbSNP
rs2145328898 315 D>V No Ensembl
rs1914059378 316 L>M No Ensembl
rs2145328906 316 L>P No Ensembl
rs2145328909 317 N>D No Ensembl
rs2145328911 317 N>I No Ensembl
rs2145328916 317 N>K No Ensembl
rs2145328911 317 N>T No Ensembl
rs2145328921 318 P>H No Ensembl
rs2145328921 318 P>L No Ensembl
rs2145328935 319 D>A No Ensembl
rs1363672004 319 D>E No TOPMed
rs2145328935 319 D>G No Ensembl
rs777133920 319 D>H No ExAC
TOPMed
gnomAD
rs777133920 319 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2145328935 319 D>V No Ensembl
rs753862594 320 S>I No ExAC
gnomAD
rs753862594 320 S>N No ExAC
gnomAD
rs150929326 320 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs753862594 320 S>T No ExAC
gnomAD
rs2145328959 321 D>A No Ensembl
rs1914059892 321 D>E No gnomAD
rs1427351200 321 D>H No gnomAD
rs1427351200
RCV001368173
321 D>N No ClinVar
dbSNP
gnomAD
rs2145328959 321 D>V No Ensembl
rs2145328965 322 K>E No Ensembl
rs2145328972 322 K>M No Ensembl
rs1416858721 322 K>N No TOPMed
rs2145328982 323 I>L No Ensembl
rs2145328985 323 I>T No Ensembl
rs201368515 324 I>F No 1000Genomes
ExAC
gnomAD
rs201368515 324 I>L No 1000Genomes
ExAC
gnomAD
rs2145328997 324 I>T No Ensembl
rs201368515 324 I>V No 1000Genomes
ExAC
gnomAD
rs2145329006 325 Y>F No Ensembl
rs2145329002 325 Y>N No Ensembl
rs2145329006 325 Y>S No Ensembl
rs1364056722
RCV001908903
326 S>A No ClinVar
dbSNP
gnomAD
rs2145329022 326 S>L No Ensembl
rs1364056722 326 S>P No gnomAD
rs2145329036 327 H>L No Ensembl
rs2145329031 327 H>N No Ensembl
rs2145329036 327 H>P No Ensembl
COSM3532100 327 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2145329031 327 H>Y No Ensembl
rs2145329051 328 F>I No Ensembl
rs747189004 328 F>L No ExAC
gnomAD
rs2145329058 328 F>S No Ensembl
rs1298964952 329 T>M No TOPMed
gnomAD
rs2145329066 329 T>P No Ensembl
rs1298964952 329 T>R No TOPMed
gnomAD
rs2145329066 329 T>S No Ensembl
rs2145329098 330 C>* No Ensembl
rs2145329086 330 C>R No Ensembl
rs2145329094 330 C>S No Ensembl
rs2145329086 330 C>S No Ensembl
rs2145329098 330 C>W No Ensembl
rs2145329113 331 A>D No Ensembl
rs2145329106 331 A>P No Ensembl
rs2145329106 331 A>T No Ensembl
rs2145329113 331 A>V No Ensembl
rs1201897778 332 T>I No TOPMed
rs1201897778 332 T>N No TOPMed
rs1201897778 332 T>S No TOPMed
rs1323407613 333 D>G No gnomAD
rs776555145 333 D>H No 1000Genomes
ExAC
gnomAD
COSM994456
rs776555145
333 D>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1323407613 333 D>V No gnomAD
rs776555145 333 D>Y No 1000Genomes
ExAC
gnomAD
rs2145329153 334 T>A No Ensembl
rs2145329159 334 T>M No Ensembl
rs2145329159 334 T>R No Ensembl
rs2145329168 335 E>* No Ensembl
rs1290800871 335 E>D No gnomAD
rs2145329172 335 E>G No Ensembl
rs2145329168 335 E>K No Ensembl
rs2145329168 335 E>Q No Ensembl
rs2145329172 335 E>V No Ensembl
rs928679789 336 N>K No TOPMed
gnomAD
rs770247248 336 N>S No ExAC
gnomAD
rs770247248 336 N>T No ExAC
gnomAD
rs2145329184 336 N>Y No Ensembl
rs2145329190 337 I>F No Ensembl
rs1356009409 337 I>M No TOPMed
gnomAD
rs2145329193 337 I>N No Ensembl
rs2145329193 337 I>S No Ensembl
rs2145329193 337 I>T No Ensembl
rs773591539 338 R>C No ExAC
gnomAD
rs2145329202 338 R>H No Ensembl
rs2145329202 338 R>L No Ensembl
rs2145329202 338 R>P No Ensembl
rs2145329222 339 F>C No Ensembl
rs2145329215 339 F>I No Ensembl
rs763245208 339 F>L No ExAC
gnomAD
rs2145329215 339 F>L No Ensembl
rs2145329234 340 V>E No Ensembl
rs2145329234 340 V>G No Ensembl
rs2145329230 340 V>L No Ensembl
rs2145329230
RCV002018914
340 V>M No ClinVar
Ensembl
dbSNP
rs2145329244 341 F>I No Ensembl
rs2145329244 341 F>V No Ensembl
rs2145329256
COSM4431940
342 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2145329259 342 A>V No Ensembl
rs1424927429 343 A>D No gnomAD
rs1424927429 343 A>G No gnomAD
rs752451221 343 A>T No ExAC
gnomAD
rs1424927429 343 A>V No gnomAD
rs2145329292 344 V>A No Ensembl
rs2145329292 344 V>E No Ensembl
rs2145329292 344 V>G No Ensembl
rs1383785285 344 V>L No gnomAD
rs1383785285
COSM994458
344 V>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs763698658 345 K>N No ExAC
TOPMed
rs2145329298 345 K>R No Ensembl
rs2145329308 346 D>A No Ensembl
rs2145329314 346 D>E No Ensembl
rs2145329308 346 D>G No Ensembl
rs2145329304 346 D>H No Ensembl
rs2145329304 346 D>N No Ensembl
rs2145329308 346 D>V No Ensembl
RCV002269119
rs2145329319
347 T>A No ClinVar
Ensembl
dbSNP
rs2145329322 347 T>I No Ensembl
rs2145329322 347 T>S No Ensembl
rs1914062147 348 I>M No TOPMed
rs2145329327 348 I>N No Ensembl
rs2145329333 349 L>P No Ensembl
rs2145329333 349 L>Q No Ensembl
rs2145329341 350 Q>* No Ensembl
rs2145329347 350 Q>L No Ensembl
rs2145329351 351 L>H No Ensembl
rs2145329351 351 L>P No Ensembl
rs753245806 351 L>V No ExAC
TOPMed
gnomAD
rs2145329362 352 N>K No Ensembl
rs376124717 352 N>S No ESP
ExAC
TOPMed
gnomAD
rs376124717 352 N>T No ESP
ExAC
TOPMed
gnomAD
rs2145329363 353 L>H No Ensembl
rs543962567 354 K>E No TOPMed
gnomAD
rs2145329372 354 K>N No Ensembl
rs543962567 354 K>Q No TOPMed
gnomAD
rs2145329375 355 E>* No Ensembl
rs1158680732 355 E>D No TOPMed
gnomAD
rs2145329375 355 E>K No Ensembl
rs2145329375 355 E>Q No Ensembl
rs2145329398 356 Y>* No Ensembl
rs1914062614 356 Y>C No Ensembl
rs2145329387 356 Y>D No Ensembl
rs2145329387 356 Y>H No Ensembl
rs2145329387 356 Y>N No Ensembl
rs1914062614 356 Y>S No Ensembl
rs1914062675 357 N>K No Ensembl
rs2145329403 357 N>S No Ensembl
rs2145329403 357 N>T No Ensembl
rs2145329412 358 L>P No Ensembl
rs2145329412 358 L>Q No Ensembl
rs2145329422 359 V>D No Ensembl
rs2145329417 359 V>F No Ensembl
rs2145329417 359 V>L No Ensembl
rs2145329436 360 V>C No Ensembl
rs2145329429 360 V>R No Ensembl
rs2145329436 360 V>W No Ensembl

No associated diseases with P29992

3 regional properties for P29992

Type Name Position InterPro Accession
domain Muniscin, C-terminal 539 - 804 IPR018808
domain Mu homology domain 537 - 805 IPR028565
domain SGIP1, mu-homology domain 539 - 805 IPR037984

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor
  • Cytoplasm
  • In testicular cells, expressed exclusively in the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
heterotrimeric G-protein complex Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G protein-coupled receptors to an effector protein.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
photoreceptor outer segment The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

7 GO annotations of molecular function

Name Definition
enzyme regulator activity Binds to and modulates the activity of an enzyme.
G protein activity A molecular function regulator that cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular processes. Intrinsic GTPase activity returns the G protein to its GDP-bound state. The return to the GDP-bound state can be accelerated by the action of a GTPase-activating protein (GAP).
G protein-coupled receptor binding Binding to a G protein-coupled receptor.
G-protein beta/gamma-subunit complex binding Binding to a complex of G-protein beta/gamma subunits.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction
metal ion binding Binding to a metal ion.

19 GO annotations of biological process

Name Definition
action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities.
adenylate cyclase-modulating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP).
cellular response to pH Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution.
cranial skeletal system development The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
developmental pigmentation The developmental process that results in the deposition of coloring matter in an organism, tissue or cell.
endothelin receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
entrainment of circadian clock The synchronization of a circadian rhythm to environmental time cues such as light.
G protein-coupled acetylcholine receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription.
heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
ion channel modulating, G protein-coupled receptor signaling pathway The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds through activation or inhibition of an ion channel.
ligand-gated ion channel signaling pathway The series of molecular signals initiated by activation of a ligand-gated ion channel on the surface of a cell. The pathway begins with binding of an extracellular ligand to a ligand-gated ion channel and ends with a molecular function that directly regulates a downstream cellular process, e.g. transcription.
phospholipase C-activating dopamine receptor signaling pathway A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway A phospholipase C-activating G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
phototransduction, visible light The sequence of reactions within a cell required to convert absorbed photons from visible light into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm.
positive regulation of insulin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of melanocyte differentiation Any process that modulates the frequency, rate or extent of melanocyte differentiation.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38408 GNA14 Guanine nucleotide-binding protein subunit alpha-14 Bos taurus (Bovine) PR
P23625 Galphaq G protein alpha q subunit Drosophila melanogaster (Fruit fly) PR
O95837 GNA14 Guanine nucleotide-binding protein subunit alpha-14 Homo sapiens (Human) SS
P30679 GNA15 Guanine nucleotide-binding protein subunit alpha-15 Homo sapiens (Human) SS
P50148 GNAQ Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P11488 GNAT1 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P19087 GNAT2 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P08754 GNAI3 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
A8MTJ3 GNAT3 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P19086 GNAZ Guanine nucleotide-binding protein G Homo sapiens (Human) SS
Q14344 GNA13 Guanine nucleotide-binding protein subunit alpha-13 Homo sapiens (Human) SS
Q03113 GNA12 Guanine nucleotide-binding protein subunit alpha-12 Homo sapiens (Human) SS
P38405 GNAL Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P04899 GNAI2 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P63096 GNAI1 Guanine nucleotide-binding protein G Homo sapiens (Human) EV
P09471 GNAO1 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P21279 Gnaq Guanine nucleotide-binding protein G(q) subunit alpha Mus musculus (Mouse) PR
P30678 Gna15 Guanine nucleotide-binding protein subunit alpha-15 Mus musculus (Mouse) PR
Q2PKF4 GNAQ Guanine nucleotide-binding protein G(q) subunit alpha Sus scrofa (Pig) PR
P93564 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Solanum tuberosum (Potato) SS
O88302 Gna15 Guanine nucleotide-binding protein subunit alpha-15 Rattus norvegicus (Rat) SS
P82471 Gnaq Guanine nucleotide-binding protein G Rattus norvegicus (Rat) SS
Q9JID2 Gna11 Guanine nucleotide-binding protein subunit alpha-11 Rattus norvegicus (Rat) SS
Q0DJ33 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Oryza sativa subsp. japonica (Rice) SS
P49084 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Glycine max (Soybean) (Glycine hispida) SS
P93163 GPA2 Guanine nucleotide-binding protein alpha-2 subunit Glycine max (Soybean) (Glycine hispida) SS
O80462 XLG1 Extra-large guanine nucleotide-binding protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
P18064 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Arabidopsis thaliana (Mouse-ear cress) SS
P26981 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Solanum lycopersicum (Tomato) (Lycopersicon esculentum) SS
10 20 30 40 50 60
MTLESMMACC LSDEVKESKR INAEIEKQLR RDKRDARREL KLLLLGTGES GKSTFIKQMR
70 80 90 100 110 120
IIHGAGYSEE DKRGFTKLVY QNIFTAMQAM IRAMETLKIL YKYEQNKANA LLIREVDVEK
130 140 150 160 170 180
VTTFEHQYVS AIKTLWEDPG IQECYDRRRE YQLSDSAKYY LTDVDRIATL GYLPTQQDVL
190 200 210 220 230 240
RVRVPTTGII EYPFDLENII FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV
250 260 270 280 290 300
ESDNENRMEE SKALFRTIIT YPWFQNSSVI LFLNKKDLLE DKILYSHLVD YFPEFDGPQR
310 320 330 340 350
DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ LNLKEYNLV