P29992
Gene name |
GNA11 (GA11) |
Protein name |
Guanine nucleotide-binding protein subunit alpha-11 |
Names |
G alpha-11 , G-protein subunit alpha-11 , Guanine nucleotide-binding protein G, y subunit alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2767 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
189-353 (Ras-like domain) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Goricanec D et al. (2016) "Conformational dynamics of a G-protein α subunit is tightly regulated by nucleotide binding", Proceedings of the National Academy of Sciences of the United States of America, 113, E3629-38
- Coleman DE et al. (1999) "Structure of Gialpha1.GppNHp, autoinhibition in a galpha protein-substrate complex", The Journal of biological chemistry, 274, 16669-72
- Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7
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
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 |