P32241
PR
Gene name |
VIPR1 |
Protein name |
Vasoactive intestinal polypeptide receptor 1 |
Names |
VIP-R-1, Pituitary adenylate cyclase-activating polypeptide type II receptor, PACAP type II receptor, PACAP-R-2, PACAP-R2, VPAC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7433 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
18 structures for P32241
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1OF2 | X-ray | 220 A | C | 400-408 | PDB |
| 1OGT | X-ray | 147 A | C | 400-408 | PDB |
| 3B3I | X-ray | 186 A | C | 400-408 | PDB |
| 3B6S | X-ray | 180 A | C | 400-408 | PDB |
| 3DTX | X-ray | 210 A | C | 400-408 | PDB |
| 3HCV | X-ray | 195 A | C | 400-408 | PDB |
| 5DEF | X-ray | 160 A | C | 400-408 | PDB |
| 5DEG | X-ray | 183 A | C | 400-408 | PDB |
| 5IB1 | X-ray | 191 A | C | 400-408 | PDB |
| 5IB2 | X-ray | 144 A | C | 400-408 | PDB |
| 5IB3 | X-ray | 191 A | C | 400-408 | PDB |
| 5IB4 | X-ray | 195 A | C | 400-408 | PDB |
| 5IB5 | X-ray | 249 A | C/F | 400-408 | PDB |
| 6VN7 | EM | 320 A | R | 31-437 | PDB |
| 7ALO | X-ray | 180 A | C/F | 400-408 | PDB |
| 8E3Y | EM | 230 A | R | 28-457 | PDB |
| 8E3Z | EM | 270 A | R | 28-457 | PDB |
| AF-P32241-F1 | Predicted | AlphaFoldDB |
448 variants for P32241
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA352251815 rs1456540471 |
2 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA74138360 rs371174986 |
2 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1327476656 CA352251840 |
6 | P>S | No |
ClinGen TOPMed |
|
|
rs1055941562 CA74138362 |
8 | P>L | No |
ClinGen TOPMed |
|
|
CA352251857 rs1300765344 |
9 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA74138367 rs893284159 |
9 | A>S | No |
ClinGen TOPMed |
|
|
CA352251858 rs1300765344 |
9 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352251863 rs1241212342 |
10 | R>H | No |
ClinGen gnomAD |
|
|
rs1329430355 CA352251860 |
10 | R>S | No |
ClinGen gnomAD |
|
|
CA352251913 rs1011872628 |
14 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1011872628 CA74138368 |
14 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765645789 CA2334279 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2334280 rs750829637 |
24 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1020538812 CA74138378 |
25 | P>S | No |
ClinGen TOPMed |
|
|
CA74144146 rs866308427 |
27 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352252402 rs1163289927 |
27 | G>S | No |
ClinGen Ensembl |
|
|
rs866308427 CA352252405 |
27 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2334286 rs201547333 |
28 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs193233046 CA352252424 |
30 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 30 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs193233046 CA74144159 COSM1044694 |
30 | A>V | endometrium Variant assessed as Somatic; 6.51e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA352252427 rs1181911859 |
31 | A>S | No |
ClinGen TOPMed |
|
|
CA352252436 rs1251900733 |
32 | R>S | No |
ClinGen gnomAD |
|
|
CA352252451 rs1439488919 |
35 | E>K | No |
ClinGen TOPMed |
|
|
CA352252464 rs1179941587 |
36 | E>A | No |
ClinGen gnomAD |
|
|
rs372732994 CA74144165 |
36 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1482402913 CA352252459 |
36 | E>K | No |
ClinGen gnomAD |
|
|
rs1199644500 CA352252467 |
37 | C>G | No |
ClinGen TOPMed |
|
|
rs1577216476 CA352252470 |
37 | C>S | No |
ClinGen Ensembl |
|
|
CA2334290 rs199557126 |
38 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749154249 CA352252474 |
38 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749154249 CA2334289 |
38 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352252484 rs1366998692 |
39 | Y>C | No |
ClinGen gnomAD |
|
|
CA352252492 rs1225534025 |
40 | V>A | No |
ClinGen TOPMed |
|
|
CA74144195 rs892580352 |
40 | V>M | No |
ClinGen gnomAD |
|
|
CA352252499 rs1370045558 |
41 | Q>H | No |
ClinGen gnomAD |
|
|
rs778972561 CA2334291 |
43 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA352252522 rs1395855908 |
44 | E>D | No |
ClinGen gnomAD |
|
|
rs555031811 CA2334293 |
44 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334294 rs776870822 |
45 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1311015854 CA352252523 |
45 | V>M | No |
ClinGen gnomAD |
|
|
CA352252534 CA352252535 rs1230169820 |
46 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA74144234 rs913004714 |
47 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1274844595 CA352252541 |
47 | H>Q | No |
ClinGen gnomAD |
|
|
CA352252548 rs1340873625 |
48 | K>M | No |
ClinGen gnomAD |
|
|
rs1202362375 CA352252549 |
48 | K>N | No |
ClinGen gnomAD |
|
|
rs945785530 CA74144239 |
49 | Q>* | No |
ClinGen TOPMed |
|
|
rs762085862 CA2334295 |
49 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA74144246 rs201674548 |
52 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1181133130 CA352252572 |
52 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352252573 rs1181133130 |
52 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1181133130 CA352252574 |
52 | E>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 53 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352252577 rs1464186922 |
53 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs140984283 CA2334296 |
54 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352252590 rs1169487426 |
55 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773429186 CA2334297 |
57 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745770073 CA2334310 |
62 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867860419 CA74147511 |
64 | S>R | No |
ClinGen Ensembl |
|
|
CA352252924 rs1335429852 |
66 | M>I | No |
ClinGen TOPMed |
|
|
rs772165833 CA2334311 |
67 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1209180361 CA352252934 |
67 | W>* | No |
ClinGen gnomAD |
|
|
CA74147528 rs901188911 |
70 | L>F | No |
ClinGen gnomAD |
|
|
rs954675470 CA74147555 |
71 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352252978 rs1577227086 |
71 | T>P | No |
ClinGen Ensembl |
|
|
CA352252988 rs1457985621 |
72 | C>R | No |
ClinGen gnomAD |
|
|
CA352252993 rs1477759214 |
72 | C>S | No |
ClinGen gnomAD |
|
|
rs1477759214 CA352252991 |
72 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2334314 rs770128041 |
73 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334316 rs749480126 |
75 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334315 rs773550448 |
75 | A>T | No |
ClinGen ExAC |
|
|
CA352253027 rs749480126 |
75 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352253035 rs1158988647 |
76 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201078991 CA2334318 |
78 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368205872 CA2334317 |
78 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2334319 rs372664609 |
79 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352253069 rs1435188449 |
80 | Q>R | No |
ClinGen gnomAD |
|
|
rs1577227221 CA352253084 |
81 | V>G | No |
ClinGen Ensembl |
|
|
rs1165539903 CA352253092 |
82 | V>A | No |
ClinGen TOPMed |
|
|
rs202125390 CA2334321 |
82 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302172467 CA352253121 |
85 | A>V | No |
ClinGen gnomAD |
|
|
RCV000943752 CA2334322 rs201942399 |
89 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1229780003 CA352253204 |
93 | F>S | No |
ClinGen gnomAD |
|
|
CA352253218 rs1290911824 |
94 | S>F | No |
ClinGen gnomAD |
|
|
rs1451231158 CA352253236 |
96 | I>T | No |
ClinGen gnomAD |
|
|
CA352253793 rs1559492126 |
98 | G>A | No |
ClinGen Ensembl |
|
|
rs753471252 CA2334324 |
98 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA74151105 rs71315548 |
99 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1227837383 CA352253796 |
99 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA352253797 rs1227837383 |
99 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2334350 rs71315548 RCV000967740 |
99 | R>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs746093130 CA2334353 |
102 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1005579438 CA74151120 |
103 | R>C | No |
ClinGen gnomAD |
|
|
rs772362568 CA2334354 |
103 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772362568 CA352253823 |
103 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352253825 rs1210940318 |
104 | S>G | No |
ClinGen gnomAD |
|
|
CA352253832 rs1577240740 |
105 | C>S | No |
ClinGen Ensembl |
|
|
CA2334357 CA2334358 rs769082854 |
107 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201503204 CA2334356 |
107 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs769482985 CA2334360 |
108 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2334362 rs762709095 |
110 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2334361 rs141209102 |
110 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434597444 CA352253866 |
110 | W>R | No |
ClinGen TOPMed |
|
|
CA2334363 rs766229973 |
111 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3823874 CA2334364 rs201936099 |
111 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1274821697 CA352253908 |
115 | P>T | No |
ClinGen gnomAD |
|
|
rs1322009370 CA352253921 |
116 | G>S | No |
ClinGen gnomAD |
|
|
CA2334367 rs753944636 |
117 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753944636 CA352253930 |
117 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352253928 rs1211036874 |
117 | P>S | No |
ClinGen gnomAD |
|
|
rs750592460 CA352253937 |
118 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2334369 rs778975454 |
118 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334371 rs758648714 |
119 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1053902175 CA352253941 |
119 | P>L | No |
ClinGen TOPMed |
|
|
rs1053902175 CA74151200 |
119 | P>R | No |
ClinGen TOPMed |
|
|
CA352253942 rs780364312 |
120 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747381953 CA2334373 |
120 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334372 rs780364312 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479411854 CA352253952 |
121 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352253958 rs1349758533 |
122 | C>Y | No |
ClinGen TOPMed |
|
|
CA2334374 rs563062908 |
123 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352253972 rs1456466652 |
124 | L>F | No |
ClinGen gnomAD |
|
|
rs1287371089 CA352253973 |
125 | D>N | No |
ClinGen gnomAD |
|
|
CA352253977 rs1393111167 |
125 | D>V | No |
ClinGen gnomAD |
|
|
rs144670843 CA2334375 RCV000906822 |
126 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352253981 rs1387477768 |
126 | D>N | No |
ClinGen gnomAD |
|
|
CA74151222 rs199524750 |
127 | K>* | No |
ClinGen 1000Genomes |
|
|
rs879253626 CA74151223 |
127 | K>R | No |
ClinGen Ensembl |
|
|
rs769129793 CA2334377 |
128 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2334376 rs748693373 |
128 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74151251 rs1008789475 |
129 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1336788144 CA352254010 |
130 | S>G | No |
ClinGen TOPMed |
|
|
CA2334379 rs762657643 |
130 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352254026 rs772994782 |
131 | L>F | No |
ClinGen gnomAD |
|
|
rs1267557556 CA352254035 |
132 | D>G | No |
ClinGen gnomAD |
|
|
CA2334381 rs547132664 |
132 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395771879 CA352254568 |
136 | T>S | No |
ClinGen gnomAD |
|
|
CA74152320 rs937234711 |
137 | M>I | No |
ClinGen TOPMed |
|
|
CA74152307 rs928583245 |
137 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2334402 rs140462968 |
137 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764065306 CA2334403 |
139 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs528945826 CA2334405 |
140 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334404 rs528945826 |
140 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334407 rs751675314 |
142 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1577244191 CA352254658 |
144 | T>P | No |
ClinGen Ensembl |
|
|
rs753148130 CA74152366 |
145 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352254665 rs753148130 |
145 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334410 rs753148130 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334411 rs756671402 |
146 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2334413 rs778484751 |
147 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559493429 CA352254697 |
147 | T>I | No |
ClinGen Ensembl |
|
|
rs778484751 CA2334412 |
147 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334415 rs559421642 |
149 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334416 rs745468089 |
149 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275743279 CA352254753 |
150 | Y>C | No |
ClinGen gnomAD |
|
|
rs746864283 CA2334419 |
151 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs528093305 CA2334418 |
151 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335131265 CA352254784 |
152 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs776484705 CA2334421 |
153 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2334420 rs768574918 |
153 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766398547 CA2334423 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303381318 CA352254832 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA352254839 rs1577244413 |
156 | T>P | No |
ClinGen Ensembl |
|
|
rs759649498 CA2334425 |
158 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs899351737 CA74152446 |
159 | V>I | No |
ClinGen Ensembl |
|
|
rs1466039518 CA352254862 |
160 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352254900 rs756618093 |
163 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1484959158 CA352254894 |
163 | I>T | No |
ClinGen gnomAD |
|
|
CA352254903 rs1426560959 |
164 | L>M | No |
ClinGen gnomAD |
|
|
CA352254947 rs1174822444 |
166 | L>P | No |
ClinGen gnomAD |
|
|
CA352254985 rs1458052320 |
168 | R>K | No |
ClinGen gnomAD |
|
|
rs762386402 CA2334450 |
169 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1230255105 CA352255163 |
171 | H>D | No |
ClinGen gnomAD |
|
|
rs749896105 CA2334453 |
172 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs749896105 CA2334452 |
172 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352255209 rs751164992 |
173 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1423102 rs751164992 CA2334455 |
173 | T>M | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201431086 CA2334459 |
174 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2334458 rs747988607 |
174 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334460 rs777837029 |
175 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA352255327 rs772137041 |
179 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334462 rs772137041 |
179 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352255356 rs775739070 |
180 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs775739070 CA2334463 |
180 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA74152945 rs907867482 |
180 | H>Y | No |
ClinGen Ensembl |
|
|
CA2334464 rs530683313 |
181 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769046349 CA2334465 |
181 | L>P | No |
ClinGen ExAC |
|
|
CA352255371 rs530683313 |
181 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753289148 CA74152966 |
183 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352255398 rs1169082355 |
183 | I>T | No |
ClinGen gnomAD |
|
|
CA2334467 rs550829636 |
186 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA74152978 rs765523564 |
190 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334469 rs765523564 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1721386 CA2334472 rs200467145 |
191 | A>T | NS [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142382879 CA2334474 |
192 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142382879 CA74153017 |
192 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767218312 CA2334475 |
194 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA352255567 rs767218312 |
194 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755875068 CA2334477 |
197 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74153034 rs920805954 |
197 | L>S | No |
ClinGen gnomAD |
|
|
rs752488303 CA2334476 |
197 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050577545 CA74153053 |
201 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1050577545 CA352255688 |
201 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs912106335 CA74153056 |
202 | S>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 202 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352255729 rs1167295833 |
203 | G>E | No |
ClinGen gnomAD |
|
|
COSM1737373 CA2334481 CA2334482 rs780256683 |
203 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2334483 rs768993426 |
204 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334484 rs529829016 |
205 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM252915 rs115435479 CA2334485 RCV000946725 |
205 | S>L | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2334486 rs115435479 |
205 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352255812 rs1577246196 |
208 | C>Y | No |
ClinGen Ensembl |
|
|
rs766922184 CA2334489 |
209 | S>C | No |
ClinGen ExAC |
|
|
CA2334491 rs759116545 |
210 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1226738250 CA352255862 |
211 | G>V | No |
ClinGen gnomAD |
|
|
CA2334492 rs534717289 COSM1044698 |
212 | S>L | Variant assessed as Somatic; 4.681e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534717289 CA2334493 |
212 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334517 rs750336284 |
214 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2334518 rs199646167 |
215 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352256497 rs1303123804 |
216 | K>Q | No |
ClinGen gnomAD |
|
|
CA352256502 rs1344149850 |
216 | K>R | No |
ClinGen gnomAD |
|
|
rs149926830 CA2334520 |
218 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2334522 rs767374571 |
219 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs767374571 CA74155006 |
219 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs756348792 CA2334521 |
219 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs749532849 CA2334523 |
220 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2334524 rs771232178 |
223 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2334525 rs779276444 |
225 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs145387839 CA74155031 |
227 | M>T | No |
ClinGen ESP gnomAD |
|
|
CA352256719 rs1359624033 |
228 | A>T | No |
ClinGen TOPMed |
|
|
CA352256758 rs1207125535 |
230 | F>L | No |
ClinGen gnomAD |
|
|
rs1250993234 CA352256799 |
232 | W>S | No |
ClinGen gnomAD |
|
|
CA74155034 rs113439439 |
234 | L>P | No |
ClinGen TOPMed |
|
|
rs113439439 CA352256837 |
234 | L>Q | No |
ClinGen TOPMed |
|
|
rs746410372 CA2334527 |
235 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772523082 CA2334528 |
237 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA352256881 rs1445366788 |
237 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1445366788 CA352256877 |
237 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1006013357 CA74155055 |
238 | L>P | No |
ClinGen Ensembl |
|
|
CA2334529 rs775081511 |
239 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA352256967 rs1559496163 |
244 | L>P | No |
ClinGen Ensembl |
|
|
rs377053285 CA2334530 |
245 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2334533 rs761536147 |
246 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs776206770 CA2334532 |
246 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2334535 rs765163878 |
247 | S>Y | No |
ClinGen ExAC |
|
|
CA352257016 CA352257018 rs1313739181 |
248 | F>L | No |
ClinGen gnomAD |
|
|
CA74155093 rs1013458004 |
249 | F>S | No |
ClinGen TOPMed |
|
|
CA352257039 rs1206568335 |
250 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1206568335 CA352257041 |
250 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA352257047 rs1251780901 |
251 | E>K | No |
ClinGen gnomAD |
|
|
CA352257068 rs200621312 |
252 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334537 rs200621312 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750203135 CA2334536 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352257093 rs1461938820 |
254 | Y>* | No |
ClinGen gnomAD |
|
|
rs1339825984 CA352257090 |
254 | Y>C | No |
ClinGen TOPMed |
|
|
CA352257118 rs1383483269 |
256 | W>* | No |
ClinGen gnomAD |
|
|
CA74155105 rs900198347 |
256 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs900198347 CA352257116 |
256 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs900198347 CA352257114 |
256 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144950832 CA2334539 COSM109032 |
257 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA352257143 rs1460841281 |
258 | Y>* | No |
ClinGen gnomAD |
|
|
CA2334541 rs777891441 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756212573 CA352257136 |
258 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs756212573 CA2334540 |
258 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs140570513 CA2334542 |
259 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140570513 CA2334543 |
259 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352257164 rs1407212234 |
260 | L>I | No |
ClinGen gnomAD |
|
|
rs369334715 CA2334546 |
262 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780494471 CA352257203 |
263 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA74155148 rs1002101458 |
263 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2334547 rs780494471 |
263 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1484905102 CA352257507 |
264 | G>A | No |
ClinGen gnomAD |
|
|
CA2334561 rs765379111 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs138002757 CA2334563 |
266 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA2334564 rs780445720 |
267 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755471706 CA2334567 |
270 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755471706 CA2334566 |
270 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352257585 rs1450952473 |
272 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352257583 rs1450952473 |
272 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352257587 rs1304927735 |
273 | W>R | No |
ClinGen gnomAD |
|
|
CA2334568 rs747603223 |
274 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2334569 rs552572277 |
274 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375928724 CA2334573 |
276 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375928724 CA74155578 |
276 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306513252 CA352257619 |
276 | A>V | No |
ClinGen gnomAD |
|
|
CA352257626 rs1259014683 |
277 | R>T | No |
ClinGen gnomAD |
|
|
rs1315243349 CA352257645 |
279 | H>Y | No |
ClinGen gnomAD |
|
|
rs767436010 CA2334575 |
280 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2334576 rs776699591 |
281 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138536649 CA2334577 |
284 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2334578 rs765289138 |
284 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs766565350 CA2334599 |
285 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334600 rs373308715 |
288 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199528344 CA2334601 |
289 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs376441949 CA2334602 |
290 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144643654 CA2334603 |
294 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756655145 CA2334604 |
295 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA74155829 rs895678343 |
298 | K>R | No |
ClinGen Ensembl |
|
|
rs753336120 CA2334607 |
300 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1421242582 CA352257871 |
301 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2334608 rs756868403 |
302 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA74155841 rs373034151 |
303 | T>I | No |
ClinGen Ensembl |
|
|
rs778698453 CA2334609 |
305 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352257962 rs1296940004 |
307 | V>I | No |
ClinGen gnomAD |
|
|
rs917140010 CA352257983 |
308 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA74156142 rs867864346 |
310 | I>T | No |
ClinGen Ensembl |
|
|
rs750132134 CA2334628 |
311 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA352258009 rs1176065463 |
311 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2334629 rs758007474 |
314 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2334630 rs367876745 |
315 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352258101 rs1230641433 |
316 | I>V | No |
ClinGen gnomAD |
|
|
CA2334631 rs746749772 |
317 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352258121 rs200704872 |
317 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM176194 CA2334632 rs200704872 |
317 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs577178707 CA2334633 |
318 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352258183 rs1283875838 |
322 | K>Q | No |
ClinGen gnomAD |
|
|
rs1490820378 CA352258208 |
323 | L>P | No |
ClinGen gnomAD |
|
|
rs545269544 CA2334635 |
324 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM188416 rs748019905 CA2334634 |
324 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1431191697 CA352258272 |
327 | D>G | No |
ClinGen gnomAD |
|
|
rs1184297378 CA352258299 |
329 | R>W | No |
ClinGen gnomAD |
|
|
rs1403112993 CA352258331 |
330 | K>R | No |
ClinGen TOPMed |
|
|
CA74156160 rs375888857 |
332 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs201907436 CA2334636 |
333 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352258405 rs1188617198 |
334 | S>N | No |
ClinGen TOPMed |
|
|
CA352258420 rs1260810986 |
335 | P>L | No |
ClinGen TOPMed |
|
|
CA2334637 rs148054338 |
335 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352258424 rs1303026833 |
336 | Y>N | No |
ClinGen gnomAD |
|
|
rs776006742 CA2334639 |
337 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776006742 CA352258460 |
337 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA74160790 rs965152027 |
338 | R>K | No |
ClinGen Ensembl |
|
|
CA352258981 rs1452698402 |
340 | A>D | No |
ClinGen gnomAD |
|
|
CA74160796 rs17855906 VAR_055041 |
341 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
CA352259023 rs1311991318 |
344 | L>F | No |
ClinGen gnomAD |
|
|
rs549060597 CA2334655 |
344 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1391365863 CA352259054 |
347 | I>N | No |
ClinGen TOPMed |
|
|
rs772278261 CA2334657 |
348 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2334659 rs367931421 |
351 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747214913 CA2334660 |
351 | G>V | No |
ClinGen ExAC |
|
|
rs769108561 CA2334661 |
352 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2334662 rs776822631 |
353 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA74160842 rs972501011 |
353 | H>R | No |
ClinGen TOPMed |
|
|
CA2334664 rs765605332 COSM188417 |
358 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2334665 rs772713504 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577262012 CA352259209 |
359 | F>L | No |
ClinGen Ensembl |
|
|
CA2334666 rs561257379 |
361 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352259235 rs1194453892 |
361 | P>T | No |
ClinGen gnomAD |
|
|
CA352259259 rs1407827784 |
362 | D>E | No |
ClinGen gnomAD |
|
|
COSM1423105 CA2334668 rs200064877 |
363 | N>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs754593083 CA2334669 |
364 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767372902 CA2334670 |
364 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA352259289 rs1266283388 |
365 | K>Q | No |
ClinGen TOPMed |
|
|
CA2334671 rs752383201 |
366 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947989658 CA74160864 |
367 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA74160869 rs980626737 |
371 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs151090209 CA2334674 |
374 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 375 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2334675 rs375826611 COSM420012 |
375 | V>I | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2334676 rs375826611 |
375 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352259434 rs766844110 CA2334678 |
376 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766844110 CA2334677 |
376 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2334680 rs781630642 |
377 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2334679 rs768714483 |
377 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352259489 rs1477079526 |
380 | Q>H | No |
ClinGen gnomAD |
|
|
CA2334703 rs749825366 |
381 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334702 rs749825366 |
381 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74161093 rs749825366 |
381 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472160825 CA352260153 |
384 | V>M | No |
ClinGen TOPMed |
|
|
CA352260169 rs1375793328 |
385 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352260181 rs1224477967 |
385 | A>V | No |
ClinGen gnomAD |
|
|
CA74161121 rs1021956529 |
387 | L>V | No |
ClinGen Ensembl |
|
|
rs1351537850 CA352260257 |
389 | C>F | No |
ClinGen gnomAD |
|
|
rs969323936 CA74161128 |
389 | C>R | No |
ClinGen Ensembl |
|
|
rs758900287 CA2334705 |
392 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235869547 CA352260369 |
394 | E>D | No |
ClinGen TOPMed |
|
|
rs150295973 CA74161739 |
396 | Q>* | No |
ClinGen ESP gnomAD |
|
|
CA352260529 rs746666667 |
396 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs746666667 CA2334725 |
396 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA74161741 rs1034713634 |
397 | A>E | No |
ClinGen gnomAD |
|
|
CA2334726 rs768366294 |
397 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1034713634 CA352260563 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA352260604 rs146978112 |
398 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398364470 CA352260594 |
398 | E>G | No |
ClinGen gnomAD |
|
|
CA2334728 rs761769126 |
399 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs575125714 CA2334731 |
401 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352260675 rs1363147915 |
402 | K>E | No |
ClinGen gnomAD |
|
|
rs767524707 CA2334732 |
403 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA352260699 rs1256747931 |
403 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955182482 CA74161798 |
405 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1257104560 CA352260744 |
405 | R>H | No |
ClinGen gnomAD |
|
|
CA2334734 rs756339638 |
409 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1278738156 CA352260862 |
409 | Q>R | No |
ClinGen gnomAD |
|
|
CA352260880 rs1441295230 |
410 | G>D | No |
ClinGen gnomAD |
|
|
rs779308639 CA2334738 |
411 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779308639 CA352260896 |
411 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334737 rs754052914 |
411 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334736 rs754052914 |
411 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334739 rs746394981 |
412 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA352260923 rs1422331643 |
413 | G>C | No |
ClinGen gnomAD |
|
|
rs758893349 CA2334740 |
413 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1481551253 CA352260950 |
414 | W>* | No |
ClinGen gnomAD |
|
|
rs1577264091 CA352260969 |
414 | W>C | No |
ClinGen Ensembl |
|
|
rs1173331297 CA352260975 |
415 | N>H | No |
ClinGen gnomAD |
|
|
CA2334741 rs779447235 |
415 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 415 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173331297 CA352260981 |
415 | N>Y | No |
ClinGen gnomAD |
|
|
rs746461815 CA2334742 |
416 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1262744502 CA352261012 |
416 | P>S | No |
ClinGen TOPMed |
|
|
rs768278105 CA2334743 |
419 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2334744 rs776485976 |
420 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399861467 CA352261087 |
420 | H>Q | No |
ClinGen gnomAD |
|
|
CA2334745 rs776485976 |
420 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74161812 rs951837712 |
421 | P>L | No |
ClinGen gnomAD |
|
|
rs951837712 CA352261099 |
421 | P>Q | No |
ClinGen gnomAD |
|
|
rs1275044355 CA352261118 |
422 | S>L | No |
ClinGen gnomAD |
|
|
CA352261108 rs1235000056 |
422 | S>P | No |
ClinGen gnomAD |
|
|
CA2334748 rs762819489 |
424 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766279049 CA2334749 |
424 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA352261181 rs1215739211 |
426 | N>K | No |
ClinGen gnomAD |
|
|
CA352261193 rs1260799916 |
427 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2334751 rs368151508 |
428 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410123863 CA352261236 |
430 | C>R | No |
ClinGen Ensembl |
|
|
rs764143192 CA2334752 |
434 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1380933508 CA352261347 |
438 | T>I | No |
ClinGen gnomAD |
|
|
CA352261353 rs1320253011 |
439 | R>C | No |
ClinGen TOPMed |
|
|
CA2334754 rs761986236 |
439 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA352261355 rs761986236 |
439 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA352261349 rs1320253011 |
439 | R>S | No |
ClinGen TOPMed |
|
|
rs1367894199 CA352261360 |
440 | V>I | No |
ClinGen gnomAD |
|
|
CA352261363 rs1367894199 |
440 | V>L | No |
ClinGen gnomAD |
|
|
CA352261395 rs1577264328 |
443 | G>S | No |
ClinGen Ensembl |
|
|
rs3733055 VAR_020021 RCV000970296 CA2334755 |
445 | R>L | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA352261432 rs1230535253 |
446 | R>H | No |
ClinGen gnomAD |
|
|
rs1230535253 CA352261434 |
446 | R>P | No |
ClinGen gnomAD |
|
|
CA2334757 rs1385393417 |
446 | R>S | No |
ClinGen TOPMed |
|
|
rs923331423 CA74161856 |
448 | S>C | No |
ClinGen Ensembl |
|
|
rs1353747157 CA352261464 |
449 | S>N | No |
ClinGen gnomAD |
|
|
CA2334760 rs201098368 |
452 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2334761 rs752100807 |
453 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs988982259 CA74161896 |
455 | S>C | No |
ClinGen gnomAD |
|
|
CA352261539 rs988982259 |
455 | S>F | No |
ClinGen gnomAD |
|
|
CA74161905 rs866313673 |
456 | L>M | No |
ClinGen Ensembl |
3 associated diseases with P32241
[MIM: 614816]: Loeys-Dietz syndrome 4 (LDS4)
An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae. {ECO:0000269|PubMed:22772368, ECO:0000269|PubMed:22772371}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae. {ECO:0000269|PubMed:22772368, ECO:0000269|PubMed:22772371}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P32241
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P32241 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled peptide receptor activity | Combining with a peptide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| peptide hormone binding | Binding to a peptide with hormonal activity in animals. |
| vasoactive intestinal polypeptide receptor activity | Combining with vasoactive intestinal polypeptide to initiate a change in cell activity. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 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). |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPPSPLPAR | WLCVLAGALA | WALGPAGGQA | ARLQEECDYV | QMIEVQHKQC | LEEAQLENET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IGCSKMWDNL | TCWPATPRGQ | VVVLACPLIF | KLFSSIQGRN | VSRSCTDEGW | THLEPGPYPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ACGLDDKAAS | LDEQQTMFYG | SVKTGYTIGY | GLSLATLLVA | TAILSLFRKL | HCTRNYIHMH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LFISFILRAA | AVFIKDLALF | DSGESDQCSE | GSVGCKAAMV | FFQYCVMANF | FWLLVEGLYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YTLLAVSFFS | ERKYFWGYIL | IGWGVPSTFT | MVWTIARIHF | EDYGCWDTIN | SSLWWIIKGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILTSILVNFI | LFICIIRILL | QKLRPPDIRK | SDSSPYSRLA | RSTLLLIPLF | GVHYIMFAFF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PDNFKPEVKM | VFELVVGSFQ | GFVVAILYCF | LNGEVQAELR | RKWRRWHLQG | VLGWNPKYRH |
| 430 | 440 | 450 | |||
| PSGGSNGATC | STQVSMLTRV | SPGARRSSSF | QAEVSLV |