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

1 structures for Q9P2N2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9P2N2-F1 | Predicted | AlphaFoldDB |
588 variants for Q9P2N2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA402016249 rs1600132453 |
3 | V>G | No |
ClinGen Ensembl |
|
rs937222072 CA296332182 |
5 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs535604406 CA8879470 |
8 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1479747716 CA402016282 |
9 | V>M | No |
ClinGen gnomAD |
|
rs1600132498 CA402016292 |
10 | V>G | No |
ClinGen Ensembl |
|
rs868757973 CA296332185 |
12 | T>N | No |
ClinGen Ensembl |
|
rs1380954178 CA402016306 |
13 | A>T | No |
ClinGen gnomAD |
|
CA296332187 rs1041513698 |
14 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs945686311 CA296332186 |
14 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA402016334 rs1484607184 |
17 | Y>C | No |
ClinGen TOPMed |
|
CA402016338 rs935681577 |
18 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA296332190 rs935681577 |
18 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1054020018 CA296332192 |
22 | P>H | No |
ClinGen Ensembl |
|
rs1327867178 CA402016371 |
23 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA402016372 rs1327867178 |
23 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1405795888 CA402016370 |
23 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1567927588 CA402016377 |
24 | N>I | No |
ClinGen Ensembl |
|
CA402016382 rs1352405664 |
25 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1012380371 CA296332194 |
26 | E>V | No |
ClinGen TOPMed |
|
rs1331465772 CA402016404 |
28 | R>H | No |
ClinGen gnomAD |
|
rs1396443741 CA402016408 |
29 | C>G | No |
ClinGen TOPMed |
|
CA402016424 rs1313645176 |
31 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA402016426 rs1313645176 |
31 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA402016422 rs1243099670 |
31 | P>S | No |
ClinGen gnomAD |
|
CA402016428 rs534903406 |
32 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs534903406 CA8879473 |
32 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1164555247 CA402016434 |
33 | A>S | No |
ClinGen TOPMed |
|
CA402016449 rs1272663976 |
35 | A>V | No |
ClinGen gnomAD |
|
CA402016453 rs1414376416 |
36 | S>T | No |
ClinGen TOPMed |
|
CA402016458 rs1306018139 |
37 | H>N | No |
ClinGen gnomAD |
|
rs1356320728 CA402016465 |
37 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs1005984519 CA296332199 |
38 | P>R | No |
ClinGen gnomAD |
|
CA402016471 rs1238985721 |
39 | L>I | No |
ClinGen gnomAD |
|
CA402016478 rs1460978966 |
40 | S>G | No |
ClinGen gnomAD |
|
CA402016477 rs1460978966 |
40 | S>R | No |
ClinGen gnomAD |
|
rs1014897832 CA296332201 |
41 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA8879479 rs562030802 |
42 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA401814994 rs1336922961 |
42 | K>Q | No |
ClinGen TOPMed |
|
rs1600218250 CA401815025 |
44 | I>M | No |
ClinGen Ensembl |
|
CA295739908 rs1013375147 |
44 | I>V | No |
ClinGen TOPMed |
|
rs527942878 CA295739912 |
45 | P>R | No |
ClinGen 1000Genomes |
|
rs1384102204 CA401815043 |
46 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs541347505 CA295739918 |
46 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
rs940332268 CA295739920 |
48 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs761692539 CA8879481 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8879482 rs767177365 |
49 | R>K | No |
ClinGen ExAC |
|
rs1443377221 CA401815088 |
50 | I>F | No |
ClinGen gnomAD |
|
CA295739930 rs898711593 |
54 | L>V | No |
ClinGen Ensembl |
|
TCGA novel | 55 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA295739934 rs201097037 |
56 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA401815163 rs1345150782 |
56 | N>I | No |
ClinGen TOPMed gnomAD |
|
rs1345150782 CA401815162 |
56 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs773111349 CA8879483 |
58 | S>F | No |
ClinGen ExAC gnomAD |
|
rs761027204 CA8879484 |
59 | L>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 60 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1242385966 CA401815249 |
63 | A>V | No |
ClinGen TOPMed |
|
CA295739945 rs1032405996 |
64 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs1423816347 CA401815283 |
66 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1423816347 CA401815281 |
66 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs188975691 CA8879486 |
66 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs923057356 CA295739961 |
67 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA401815307 rs1217070323 |
68 | N>S | No |
ClinGen gnomAD |
|
rs1259910395 CA401815320 |
69 | S>* | No |
ClinGen gnomAD |
|
CA401815317 rs1267874065 |
69 | S>T | No |
ClinGen gnomAD |
|
rs1201199273 CA401815345 |
71 | A>G | No |
ClinGen gnomAD |
|
rs1245985341 CA401815338 |
71 | A>S | No |
ClinGen TOPMed |
|
CA401815365 rs1383439101 |
73 | V>A | No |
ClinGen gnomAD |
|
rs375913012 CA8879488 |
73 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375913012 CA401815360 |
73 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202161792 CA295739974 |
75 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA401815397 rs1008291449 |
75 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs753094289 CA8879489 |
76 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401815407 rs1303760993 |
76 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 78 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401815421 rs1331889078 |
78 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA401815435 rs1425458420 |
79 | E>K | No |
ClinGen TOPMed |
|
TCGA novel | 83 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879490 rs771982744 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA295739991 rs200524496 |
83 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA295739993 rs1038643861 |
85 | I>T | No |
ClinGen TOPMed |
|
rs1021644895 CA295739995 |
86 | E>G | No |
ClinGen TOPMed |
|
CA8879491 rs778147653 |
87 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1240729066 CA401815567 |
91 | S>R | No |
ClinGen gnomAD |
|
CA401815574 rs1248160771 |
92 | S>R | No |
ClinGen TOPMed |
|
rs1600218422 CA401815592 |
93 | M>V | No |
ClinGen Ensembl |
|
CA401815608 CA8879492 rs747348265 |
94 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA295740011 rs182163553 |
95 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1047095944 CA295740008 |
95 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA8879493 rs138818443 |
100 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA401815697 rs1364977121 |
101 | P>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 102 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs905048918 CA295740027 |
105 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1385150904 CA401815785 |
109 | E>K | No |
ClinGen gnomAD |
|
CA401822998 rs1323554029 |
111 | E>G | No |
ClinGen TOPMed |
|
CA8879504 rs191744500 |
114 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs988747038 CA401823088 |
114 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs988747038 CA295766850 |
114 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA401823153 rs1395369749 |
116 | W>* | No |
ClinGen TOPMed |
|
rs752786512 CA8879506 |
118 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1325680696 CA401823211 |
118 | Q>H | No |
ClinGen gnomAD |
|
CA401823230 rs1224959073 |
120 | V>M | No |
ClinGen gnomAD |
|
CA401823300 rs1340181729 |
124 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 125 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764584745 CA8879508 |
129 | D>E | No |
ClinGen ExAC gnomAD |
|
CA401823414 rs1227635591 |
129 | D>V | No |
ClinGen gnomAD |
|
rs1260662049 CA401823423 |
130 | E>K | No |
ClinGen gnomAD |
|
CA401823445 rs1287647952 |
131 | E>K | No |
ClinGen gnomAD |
|
rs1184166767 CA401823520 |
134 | G>C | No |
ClinGen gnomAD |
|
CA295766881 rs867081819 |
136 | A>T | No |
ClinGen gnomAD |
|
CA401823601 rs1428366017 |
136 | A>V | No |
ClinGen gnomAD |
|
rs751929754 CA8879509 |
138 | L>I | No |
ClinGen ExAC gnomAD |
|
rs779705868 CA8879511 |
139 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA295766898 rs11552538 |
140 | T>A | No |
ClinGen TOPMed |
|
TCGA novel | 141 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753394799 CA8879512 |
143 | R>* | No |
ClinGen ExAC gnomAD |
|
rs377021107 CA8879513 |
143 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs942558796 CA295766914 |
144 | T>I | No |
ClinGen TOPMed |
|
CA401823702 rs1303424317 |
146 | A>T | No |
ClinGen gnomAD |
|
CA8879515 rs747681482 |
147 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1279785774 CA401823745 |
148 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1458479518 CA401823749 |
149 | V>M | No |
ClinGen TOPMed |
|
CA8879518 rs746812304 |
150 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA401823878 rs1257158919 |
155 | T>I | No |
ClinGen gnomAD |
|
CA401823895 rs1489539772 |
156 | Y>F | No |
ClinGen TOPMed |
|
rs886859637 CA295766931 |
158 | Q>R | No |
ClinGen Ensembl |
|
CA401823969 CA401823967 rs1265731366 |
160 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs770031730 CA8879522 |
160 | M>V | No |
ClinGen ExAC gnomAD |
|
rs372643834 CA295766943 |
161 | R>G | No |
ClinGen ESP TOPMed |
|
CA401824024 rs1199021275 |
163 | K>N | No |
ClinGen gnomAD |
|
TCGA novel | 163 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879524 COSM4140153 rs775486883 |
164 | D>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1375870197 CA401824087 |
167 | S>C | No |
ClinGen TOPMed |
|
TCGA novel | 167 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs376868486 CA8879527 |
168 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879526 VAR_055833 rs2303978 |
168 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs762199449 CA401824094 |
169 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA295766974 rs899396894 |
169 | R>S | No |
ClinGen Ensembl |
|
rs762199449 CA8879528 |
169 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 173 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1404079675 CA401824158 |
178 | S>N | No |
ClinGen gnomAD |
|
CA8879530 rs201543358 |
179 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA401824199 rs1600229662 |
181 | P>L | No |
ClinGen Ensembl |
|
rs1369271964 CA401824194 |
181 | P>S | No |
ClinGen gnomAD |
|
CA401827205 rs1239125385 |
182 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM3388492 rs201939659 CA295775657 |
183 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA8879559 rs375800921 |
183 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401827219 rs375800921 |
183 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780172557 CA8879560 |
185 | T>A | No |
ClinGen ExAC gnomAD |
|
rs749554860 CA401827287 |
189 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879561 rs749554860 |
189 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1184868367 CA401827304 |
190 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA8879562 VAR_031155 rs6506448 |
190 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 192 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879563 rs574313127 |
193 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8879566 rs773711578 |
194 | D>G | No |
ClinGen ExAC gnomAD |
|
CA8879564 rs147354786 |
194 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8879565 rs147354786 |
194 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760967117 CA8879567 |
196 | T>I | No |
ClinGen ExAC gnomAD |
|
CA401827388 rs1449234610 |
197 | K>E | No |
ClinGen gnomAD |
|
rs201419062 CA295775762 |
198 | E>D | No |
ClinGen ExAC gnomAD |
|
CA401827448 rs1463952938 |
201 | E>G | No |
ClinGen TOPMed |
|
CA8879569 rs139451898 |
201 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA295775775 rs143568067 |
202 | L>I | No |
ClinGen ESP TOPMed |
|
rs1567970124 CA401827471 |
203 | P>Q | No |
ClinGen Ensembl |
|
rs1220741760 CA401827469 |
203 | P>S | No |
ClinGen gnomAD |
|
rs931120169 CA295775781 |
204 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs1323004649 CA401827541 |
209 | S>G | No |
ClinGen gnomAD |
|
CA295775788 rs983928279 |
212 | M>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 216 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401828345 rs1418574313 |
217 | S>A | No |
ClinGen TOPMed |
|
rs1482505596 CA401828346 |
217 | S>F | No |
ClinGen Ensembl |
|
rs930129163 CA295781703 |
218 | L>V | No |
ClinGen TOPMed |
|
rs761265642 CA8879592 |
222 | T>I | No |
ClinGen ExAC gnomAD |
|
rs767097008 CA8879593 |
223 | L>M | No |
ClinGen ExAC gnomAD |
|
rs147162571 COSM438351 CA8879595 |
226 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8879596 rs766302110 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 227 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879598 rs754709649 |
229 | D>G | No |
ClinGen ExAC gnomAD |
|
CA295781770 rs866571138 COSM1718070 |
229 | D>N | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA401828507 rs1252542604 |
230 | K>E | No |
ClinGen TOPMed |
|
CA8879599 rs779129100 CA401828534 |
231 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1343909041 CA401828532 |
231 | E>G | No |
ClinGen gnomAD |
|
CA295781791 rs867071340 |
232 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA401828549 rs1264599160 |
233 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA8879600 rs752874742 |
234 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3403629 rs190733334 CA8879601 |
235 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA295781827 rs950475518 |
236 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA8879604 rs570467660 |
237 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA401828624 rs1461403853 |
238 | R>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 240 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs149725405 CA295781835 |
240 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
CA401828672 rs1462473966 |
242 | V>L | No |
ClinGen TOPMed |
|
rs746421831 CA8879624 |
244 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145548435 CA8879625 |
245 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372099387 CA8879626 |
246 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1339468980 CA401829699 |
247 | T>S | No |
ClinGen gnomAD |
|
CA401829721 rs996275049 |
249 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA295787127 rs996275049 |
249 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1231874227 CA401829730 |
250 | V>A | No |
ClinGen gnomAD |
|
rs749612619 CA8879628 |
250 | V>L | No |
ClinGen ExAC gnomAD |
|
rs376919020 CA8879631 |
252 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376919020 CA8879630 |
252 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879633 rs770388120 |
254 | H>L | No |
ClinGen ExAC gnomAD |
|
rs770388120 CA8879632 |
254 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1488157391 CA401829786 |
256 | N>D | No |
ClinGen gnomAD |
|
rs765143625 CA8879635 |
256 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879636 rs775419249 |
257 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3692179 rs1223142867 CA401829828 |
259 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA8879638 rs549946935 |
260 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1175364088 CA401829832 |
260 | E>Q | No |
ClinGen gnomAD |
|
rs1467475888 CA401829848 |
261 | P>S | No |
ClinGen gnomAD |
|
CA8879639 rs560014794 |
262 | G>E | No |
ClinGen ExAC gnomAD |
|
rs191955313 CA8879641 |
264 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA295787199 rs191955313 |
264 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs191955313 CA8879640 |
264 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA401829902 rs1397908121 |
266 | Q>E | No |
ClinGen gnomAD |
|
CA401829907 rs1299718655 |
266 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 267 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1600264895 CA401829917 |
267 | N>Y | No |
ClinGen Ensembl |
|
TCGA novel | 268 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs148484875 CA8879642 COSM3145609 |
268 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
TCGA novel | 269 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs913460452 CA295787226 |
269 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA8879644 rs780359259 |
270 | S>G | No |
ClinGen ExAC |
|
rs749678921 CA8879645 |
270 | S>N | No |
ClinGen ExAC gnomAD |
|
CA401830623 rs1489539550 |
271 | D>G | No |
ClinGen gnomAD |
|
CA8879647 rs777511926 |
271 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879673 rs768630189 |
272 | D>N | No |
ClinGen ExAC gnomAD |
|
CA401830640 rs1237498915 |
273 | D>E | No |
ClinGen gnomAD |
|
rs1180302438 CA401830659 |
276 | E>A | No |
ClinGen gnomAD |
|
rs1180302438 CA401830657 |
276 | E>G | No |
ClinGen gnomAD |
|
CA401830674 rs1408505672 |
278 | N>S | No |
ClinGen gnomAD |
|
rs1170117420 CA401830683 |
279 | I>T | No |
ClinGen gnomAD |
|
CA8879674 rs774085134 |
280 | P>A | No |
ClinGen ExAC gnomAD |
|
CA401830701 rs1327451686 |
282 | E>D | No |
ClinGen TOPMed |
|
CA295788578 rs991477712 |
282 | E>K | No |
ClinGen TOPMed |
|
CA295788587 rs144126596 |
283 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs369043297 CA8879675 |
285 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401830746 rs1330038397 |
289 | E>V | No |
ClinGen gnomAD |
|
CA8879677 rs773520808 |
292 | Y>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 292 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA295788628 rs867413651 |
293 | S>L | No |
ClinGen Ensembl |
|
CA8879681 rs760019406 |
295 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753930092 CA8879680 |
295 | M>R | No |
ClinGen ExAC gnomAD |
|
CA8879682 rs765768815 |
297 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs374298701 CA8879684 |
298 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA401830812 rs1266468842 |
299 | A>V | No |
ClinGen TOPMed |
|
CA295788662 rs750034646 |
302 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs902613941 CA295788666 |
305 | L>P | No |
ClinGen Ensembl |
|
CA8879688 rs779490362 |
306 | K>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 308 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747979354 CA8879693 |
314 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs151056858 CA8879694 |
314 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377260177 CA8879691 |
314 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377260177 CA8879690 |
314 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747979354 CA8879692 |
314 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 314 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761025338 CA8879695 |
315 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA401831086 rs1331542354 |
316 | V>F | No |
ClinGen gnomAD |
|
rs1355557047 CA401831137 |
318 | T>N | No |
ClinGen gnomAD |
|
rs1338616142 CA401832224 |
319 | K>R | No |
ClinGen gnomAD |
|
rs200517537 CA8879715 |
321 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA295790520 rs900343574 |
322 | V>I | No |
ClinGen TOPMed |
|
rs1344364923 CA401832355 |
325 | T>N | No |
ClinGen gnomAD |
|
rs1441860859 CA401832369 |
326 | R>I | No |
ClinGen TOPMed |
|
TCGA novel | 327 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 328 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA295790524 rs920150375 |
332 | A>V | No |
ClinGen Ensembl |
|
TCGA novel | 333 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs769822230 CA8879717 |
334 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1280637248 CA401832541 |
334 | D>G | No |
ClinGen gnomAD |
|
CA295790554 rs996101228 |
337 | A>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 339 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879718 CA401832662 rs775514392 |
340 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775514392 CA295790573 |
340 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879719 rs763511946 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764582880 COSM1389636 CA8879720 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs774706809 CA8879721 COSM709007 |
347 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1476742152 CA401832822 |
348 | L>P | No |
ClinGen gnomAD |
|
CA401832855 rs762184402 |
351 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1567977926 | 355 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 361 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 364 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401833122 rs1600272052 |
366 | K>E | No |
ClinGen Ensembl |
|
CA401833156 rs1567977938 |
367 | T>I | No |
ClinGen Ensembl |
|
rs1567977938 CA401833153 |
367 | T>R | No |
ClinGen Ensembl |
|
CA401833186 rs1430388197 |
369 | K>E | No |
ClinGen gnomAD |
|
CA8879726 rs577318866 |
370 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1567977951 CA401833242 |
372 | G>A | No |
ClinGen Ensembl |
|
CA8879729 rs752239825 |
373 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM709003 CA401833260 rs758474507 |
373 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8879730 rs758474507 |
373 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8879758 rs781087496 |
374 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1353746181 CA401833336 |
375 | N>S | No |
ClinGen gnomAD |
|
CA401833360 rs1567978059 |
377 | I>N | No |
ClinGen Ensembl |
|
CA295790715 rs1272484 |
378 | F>L | No |
ClinGen Ensembl |
|
rs756337539 CA8879760 |
378 | F>S | No |
ClinGen ExAC TOPMed |
|
CA8879761 rs780195355 |
379 | G>R | No |
ClinGen ExAC gnomAD |
|
rs749397209 CA8879762 |
380 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8879764 rs369240181 |
381 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8879763 rs768682890 |
381 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1421256998 CA401833432 |
383 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA401833428 rs1421256998 |
383 | T>K | No |
ClinGen TOPMed gnomAD |
|
rs1421256998 CA401833430 |
383 | T>R | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 386 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401833464 rs1237719451 |
387 | D>N | No |
ClinGen TOPMed |
|
CA295790723 rs923941040 |
388 | G>S | No |
ClinGen TOPMed |
|
CA8879767 rs373273554 |
390 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401833511 rs373273554 |
390 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761051990 CA8879768 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8879769 rs769582556 |
391 | K>M | No |
ClinGen ExAC gnomAD |
|
rs775233672 CA8879770 |
392 | K>R | No |
ClinGen ExAC gnomAD |
|
rs762580085 CA8879771 |
393 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1185370985 COSM344661 CA401833546 |
393 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8879772 rs763696847 |
394 | P>A | No |
ClinGen ExAC gnomAD |
|
CA401833569 rs1333200967 |
394 | P>R | No |
ClinGen gnomAD |
|
rs1600272491 CA401833570 |
395 | G>R | No |
ClinGen Ensembl |
|
CA295790732 rs761880362 |
396 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761880362 CA8879774 |
396 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1316838173 CA401833595 |
397 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs376774777 CA8879776 |
398 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA295790761 rs376774777 |
398 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879775 rs376774777 |
398 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1048892749 CA295790766 |
400 | L>R | No |
ClinGen TOPMed |
|
rs887669293 CA295790769 |
401 | V>A | No |
ClinGen TOPMed |
|
rs1600272545 CA401833685 |
404 | K>* | No |
ClinGen Ensembl |
|
rs1600272545 CA401833683 |
404 | K>E | No |
ClinGen Ensembl |
|
CA401834445 rs1567978927 |
405 | F>S | No |
ClinGen Ensembl |
|
rs752833545 CA8879799 |
405 | F>V | No |
ClinGen ExAC gnomAD |
|
rs778375590 CA8879801 |
409 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371304813 CA8879802 |
411 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401834522 rs1187204751 |
413 | G>D | No |
ClinGen TOPMed |
|
TCGA novel | 419 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8879803 rs757813579 |
419 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879804 rs781727091 |
421 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8879805 rs746170150 |
421 | R>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 423 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1369346560 CA401834710 |
424 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8879806 rs149236554 |
425 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs149236554 CA295792282 |
425 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs138868164 CA8879807 |
429 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879825 rs747804678 |
432 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879824 rs544259842 |
432 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1038943587 CA295796344 |
433 | R>C | No |
ClinGen Ensembl |
|
rs149431711 CA8879826 |
433 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 433 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401836081 rs149431711 |
433 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA295796361 rs995488018 |
435 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs1179535333 CA401836125 |
436 | L>F | No |
ClinGen TOPMed |
|
CA401836135 rs1214308156 COSM268697 |
436 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
TCGA novel | 438 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401836191 rs1459335383 |
439 | K>R | No |
ClinGen TOPMed |
|
CA8879827 rs772776911 |
443 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746451560 CA8879828 |
446 | K>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 447 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401836375 rs1178664297 |
448 | D>N | No |
ClinGen gnomAD |
|
rs770866566 CA8879829 |
449 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1162302393 CA401836413 |
450 | M>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 450 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs186052265 CA8879830 |
452 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1461508505 CA401836465 |
454 | E>D | No |
ClinGen gnomAD |
|
rs1229515235 CA401836493 |
456 | A>E | No |
ClinGen TOPMed |
|
rs759405946 CA8879831 |
456 | A>S | No |
ClinGen ExAC gnomAD |
|
rs764980900 CA8879832 |
458 | M>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 458 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA295796415 rs917287052 |
459 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA8879835 rs764405442 |
461 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879837 rs761936891 |
462 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1233902143 CA401836649 |
464 | R>G | No |
ClinGen gnomAD |
|
rs768170234 CA8879838 |
464 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 465 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 466 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1600282651 CA401836714 |
467 | P>L | No |
ClinGen Ensembl |
|
rs1233278869 CA401836760 |
470 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs374931092 CA401836782 |
471 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA401836786 rs1600282680 |
472 | P>A | No |
ClinGen Ensembl |
|
rs1259101195 CA401836790 |
472 | P>L | No |
ClinGen gnomAD |
|
rs111868785 CA295796439 |
473 | V>A | No |
ClinGen Ensembl |
|
CA8879842 rs780344969 |
473 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1159419624 CA401836829 |
475 | Y>D | No |
ClinGen TOPMed |
|
rs1441779585 CA401836858 |
477 | P>S | No |
ClinGen TOPMed |
|
CA401836903 rs1406139129 |
480 | I>N | No |
ClinGen TOPMed |
|
rs1428479362 CA401836895 |
480 | I>V | No |
ClinGen Ensembl |
|
CA295796446 rs1050703307 |
483 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs1324817295 CA401838338 |
487 | P>L | No |
ClinGen gnomAD |
|
rs1317874273 CA401838328 |
487 | P>T | No |
ClinGen gnomAD |
|
CA8879869 rs745378361 CA8879868 |
488 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM398060 rs749070329 CA8879870 |
489 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 492 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401838479 rs1370903498 |
494 | Q>H | No |
ClinGen TOPMed |
|
rs1191586868 CA401838509 |
496 | L>S | No |
ClinGen Ensembl |
|
rs1370100986 CA401838503 |
496 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 500 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768612992 CA8879871 |
501 | M>L | No |
ClinGen ExAC gnomAD |
|
rs768612992 CA401838602 |
501 | M>V | No |
ClinGen ExAC gnomAD |
|
CA8879872 COSM172433 rs774266585 |
502 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA295799564 rs878867026 |
505 | D>V | No |
ClinGen Ensembl |
|
CA295799570 rs935993270 |
507 | N>S | No |
ClinGen gnomAD |
|
CA401838736 rs1243221610 |
508 | R>K | No |
ClinGen gnomAD |
|
CA401838776 rs760753313 |
509 | D>G | No |
ClinGen ExAC gnomAD |
|
rs368842280 CA8879878 |
509 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879877 rs368842280 |
509 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760753313 CA8879879 |
509 | D>V | No |
ClinGen ExAC gnomAD |
|
CA401838782 rs1461010153 |
510 | A>T | No |
ClinGen TOPMed |
|
CA401838830 rs1430578652 |
512 | Q>R | No |
ClinGen gnomAD |
|
CA8879903 rs374350860 |
513 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs767097228 CA8879904 |
514 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1443942339 CA401839568 |
515 | M>I | No |
ClinGen TOPMed |
|
rs750132111 CA8879905 |
516 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1406811219 CA401839592 |
519 | N>D | No |
ClinGen gnomAD |
|
CA8879906 rs569160351 |
519 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1182886646 CA401839599 |
520 | K>E | No |
ClinGen gnomAD |
|
rs768349698 CA8879909 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1418525870 CA401839644 |
526 | S>* | No |
ClinGen gnomAD |
|
TCGA novel | 527 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1567984063 CA401839655 |
528 | N>H | No |
ClinGen Ensembl |
|
rs1388283527 CA401839662 |
528 | N>K | No |
ClinGen TOPMed |
|
CA401839664 rs1461455875 |
529 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs778940127 CA8879911 |
529 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778940127 CA8879910 |
529 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758170033 CA8879912 |
531 | S>C | No |
ClinGen ExAC gnomAD |
|
CA8879914 rs777396655 |
532 | L>P | No |
ClinGen ExAC gnomAD |
|
CA8879915 rs747301621 |
533 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1156871331 CA401839703 |
535 | I>F | No |
ClinGen TOPMed |
|
rs1156871331 CA401839702 |
535 | I>V | No |
ClinGen TOPMed |
|
TCGA novel | 539 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771040905 CA8879916 |
540 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8879918 rs745879875 |
543 | L>P | No |
ClinGen ExAC gnomAD |
|
CA401839779 rs1450132993 |
545 | F>L | No |
ClinGen TOPMed |
|
CA8879919 rs370508108 |
548 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401839821 rs1341917924 |
548 | S>R | No |
ClinGen gnomAD |
|
CA401839826 rs1206243647 |
549 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA8879920 rs373684049 |
553 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8879922 rs769114893 |
554 | E>D | No |
ClinGen ExAC gnomAD |
|
CA8879921 rs763339559 |
554 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401839950 rs1191015194 |
558 | L>* | No |
ClinGen gnomAD |
|
CA401839952 rs1374654317 |
558 | L>F | No |
ClinGen gnomAD |
|
rs760443545 CA8879924 |
559 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401839959 rs760443545 |
559 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879925 rs765885648 |
560 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753416272 CA8879926 |
561 | T>I | No |
ClinGen ExAC gnomAD |
|
CA401839999 rs759071148 |
562 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1389650 CA8879927 rs759071148 |
562 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs139147332 CA8879930 |
563 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401840018 rs1294078928 |
564 | H>Y | No |
ClinGen gnomAD |
|
CA401840038 rs1185229533 |
565 | I>S | No |
ClinGen gnomAD |
|
CA8879931 rs73386355 |
565 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199782367 CA8879932 |
566 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8879933 rs751989443 |
567 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781333008 CA8879934 |
567 | R>H | No |
ClinGen ExAC gnomAD |
|
CA401840092 rs1213362802 |
570 | L>F | No |
ClinGen gnomAD |
|
CA401840131 rs1256801958 |
573 | Q>* | No |
ClinGen gnomAD |
|
rs1011244454 CA295801454 |
575 | I>S | No |
ClinGen Ensembl |
|
CA295801449 rs958977825 |
575 | I>V | No |
ClinGen TOPMed |
|
CA8879937 CA8879936 rs769823979 |
576 | L>F | No |
ClinGen ExAC gnomAD |
|
rs533594088 CA295801463 |
578 | K>R | No |
ClinGen 1000Genomes |
|
CA8879960 rs773686267 |
579 | V>F | No |
ClinGen ExAC |
|
CA8879962 rs769561900 |
581 | S>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 581 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs973662488 CA295801812 |
584 | I>T | No |
ClinGen Ensembl |
|
rs1392843973 CA401840522 |
585 | T>I | No |
ClinGen gnomAD |
|
CA401840521 rs1392843973 |
585 | T>S | No |
ClinGen gnomAD |
|
CA401840526 rs1163145001 |
586 | Q>P | No |
ClinGen TOPMed |
|
CA8879965 rs764113814 |
587 | V>A | No |
ClinGen ExAC gnomAD |
|
CA401840532 rs762310570 |
587 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8879964 rs762310570 |
587 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373027314 CA401840551 |
590 | M>V | No |
ClinGen gnomAD |
|
CA8879967 rs774113963 |
591 | N>H | No |
ClinGen ExAC |
|
rs761706342 CA8879968 |
593 | A>V | No |
ClinGen ExAC gnomAD |
|
CA295801844 rs144213417 |
594 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
COSM301692 CA295801846 rs144213417 |
594 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
CA401840599 rs1248202129 |
597 | L>S | No |
ClinGen TOPMed |
|
rs1336808135 CA401840606 |
598 | K>M | No |
ClinGen gnomAD |
|
CA8879972 rs371923268 |
600 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1490149560 CA401840632 |
601 | L>F | No |
ClinGen TOPMed |
|
rs561738285 CA295801858 |
602 | P>R | No |
ClinGen Ensembl |
|
rs1479527835 CA401840657 |
603 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA401840672 rs1315172509 |
604 | V>A | No |
ClinGen TOPMed |
|
CA8879974 rs754975067 |
606 | K>E | No |
ClinGen ExAC gnomAD |
|
CA401840716 rs1474600398 |
608 | L>P | No |
ClinGen gnomAD |
|
rs1251996066 CA401840710 |
608 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA8879976 rs748649231 |
610 | R>T | No |
ClinGen ExAC gnomAD |
|
rs1407624446 CA401840759 |
611 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 611 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA401840768 rs758958518 |
612 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1245345 CA8879977 rs758958518 |
612 | T>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1310105160 CA401840787 |
614 | E>G | No |
ClinGen gnomAD |
|
rs747306958 CA8879979 |
614 | E>K | No |
ClinGen ExAC gnomAD |
|
rs74414891 CA8879981 |
615 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM438355 CA8879982 rs74414891 |
615 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA401840795 rs1414282401 |
615 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA295801895 rs913882546 |
616 | E>D | No |
ClinGen TOPMed |
|
rs1197119084 CA401841784 |
617 | T>N | No |
ClinGen TOPMed |
|
CA401841796 rs1479444185 |
618 | A>E | No |
ClinGen TOPMed |
|
CA8879999 rs757656104 |
620 | P>S | No |
ClinGen ExAC TOPMed |
|
rs781587696 CA8880000 |
622 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1442509871 CA401841890 |
625 | V>I | No |
ClinGen gnomAD |
|
rs748941429 CA8880001 |
626 | L>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 627 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 629 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1391227134 CA401841971 |
630 | P>L | No |
ClinGen gnomAD |
|
CA8880004 rs778293376 |
630 | P>S | No |
ClinGen ExAC gnomAD |
|
COSM3764682 CA295804686 rs142301237 |
631 | S>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
CA8880006 rs772023309 |
633 | R>G | No |
ClinGen ExAC gnomAD |
|
CA401842003 rs1415130753 |
633 | R>K | No |
ClinGen gnomAD |
|
COSM252357 CA8880007 rs773098375 |
634 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 634 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs151310799 CA8880008 |
634 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8880010 rs776470635 |
635 | M>I | No |
ClinGen ExAC gnomAD |
|
CA8880009 rs141734364 |
635 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA295804717 rs141734364 |
635 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377109412 CA8880033 |
637 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8880031 rs775812719 |
637 | D>V | No |
ClinGen ExAC gnomAD |
|
CA8880035 rs536437799 |
639 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs536437799 CA8880034 |
639 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8880038 rs756461706 |
643 | I>T | No |
ClinGen ExAC gnomAD |
|
CA401821590 rs1567986559 |
643 | I>V | No |
ClinGen Ensembl |
|
rs752400493 CA8880040 |
644 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8880039 rs780368570 COSM1245349 |
644 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA8880042 rs777327752 |
646 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1203525791 CA401821637 COSM1245355 |
647 | A>T | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA8880044 rs757152535 |
648 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1352995660 CA401821696 |
652 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA401821694 rs1352995660 |
652 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA401821737 rs1600299804 |
655 | M>V | No |
ClinGen Ensembl |
|
CA8880046 rs374093700 |
656 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA295752006 rs1034695782 |
656 | A>V | No |
ClinGen Ensembl |
|
CA401821775 rs1286403955 |
657 | I>M | No |
ClinGen gnomAD |
|
CA295752007 rs775403492 |
660 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8880048 rs775403492 |
660 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401821815 rs1272793598 |
660 | N>S | No |
ClinGen gnomAD |
|
CA8880049 rs749578890 |
661 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401821827 rs749578890 |
661 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763546832 CA295752009 |
663 | T>P | No |
ClinGen Ensembl |
|
CA8880050 rs573361587 |
665 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs774587457 CA8880051 |
666 | K>Q | No |
ClinGen ExAC |
|
CA295752012 rs1014475397 |
667 | D>N | No |
ClinGen gnomAD |
|
CA295752013 rs542709498 |
668 | I>M | No |
ClinGen Ensembl |
|
CA401821991 rs1442520548 |
672 | F>L | No |
ClinGen TOPMed |
|
CA401821996 rs1189536290 |
673 | Q>E | No |
ClinGen gnomAD |
|
CA401822008 rs1379896474 |
673 | Q>R | No |
ClinGen gnomAD |
|
CA401822035 rs1329011513 |
674 | Y>C | No |
ClinGen TOPMed |
|
TCGA novel | 675 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1445862045 CA401822071 |
676 | N>D | No |
ClinGen TOPMed |
|
CA8880054 rs773812129 |
676 | N>K | No |
ClinGen ExAC gnomAD |
|
CA401822073 rs1474970732 |
676 | N>T | No |
ClinGen gnomAD |
|
CA8880055 rs761067458 |
677 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1412184647 CA401825288 |
677 | S>R | No |
ClinGen gnomAD |
|
CA401825295 rs1600312841 |
678 | H>N | No |
ClinGen Ensembl |
|
CA401825300 COSM3821703 rs1600312841 |
678 | H>Y | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA8880126 rs752555298 |
679 | G>S | No |
ClinGen ExAC gnomAD |
|
rs891927423 CA295755043 |
679 | G>V | No |
ClinGen TOPMed gnomAD |
|
COSM1238212 CA8880127 rs758085743 |
682 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs763916209 CA8880128 |
683 | C>R | No |
ClinGen ExAC gnomAD |
|
CA8880129 RCV000947870 rs116232392 |
683 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA295755051 rs781314519 |
684 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM179623 rs370814527 CA8880132 |
685 | K>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA401825470 rs1228782327 |
685 | K>T | No |
ClinGen gnomAD |
|
rs756658051 CA8880133 |
686 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1339784683 CA401825512 |
687 | Q>* | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs145991748 CA8880134 |
689 | Q>* | No |
ClinGen ESP ExAC TOPMed |
|
CA8880136 rs768951899 |
690 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8880137 rs756912359 |
690 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1238670059 CA401825676 |
694 | I>N | No |
ClinGen gnomAD |
|
rs1489081280 CA401826692 |
700 | E>G | No |
ClinGen TOPMed |
|
rs374455295 CA8880154 |
701 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750533475 CA8880155 |
705 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 705 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs142653243 CA8880157 |
707 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8880158 rs780161676 |
707 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8880160 rs755508220 |
708 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs951330038 CA295755984 |
709 | I>L | No |
ClinGen Ensembl |
|
CA8880161 rs779427893 |
709 | I>M | No |
ClinGen ExAC gnomAD |
|
CA8880162 rs748469883 |
710 | L>S | No |
ClinGen ExAC |
|
rs1321036747 CA401826766 |
711 | D>E | No |
ClinGen gnomAD |
|
rs766010791 CA295755987 |
711 | D>N | No |
ClinGen gnomAD |
|
COSM3772462 CA8880165 rs374272304 |
714 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757971413 CA295755995 |
715 | I>V | No |
ClinGen Ensembl |
|
CA8880166 rs769233834 |
717 | P>T | No |
ClinGen ExAC gnomAD |
|
CA401826844 rs1304589949 |
718 | Q>E | No |
ClinGen gnomAD |
|
CA401826904 rs1402024366 |
721 | W>R | No |
ClinGen TOPMed |
|
rs1345530783 CA401826925 |
722 | V>L | No |
ClinGen gnomAD |
|
CA401826968 rs1398909315 |
723 | I>S | No |
ClinGen gnomAD |
|
rs1338726188 CA401827008 |
725 | P>T | No |
ClinGen TOPMed |
|
rs1327756838 CA401827085 |
727 | Q>* | No |
ClinGen gnomAD |
|
rs1056408 CA401827096 |
727 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8880169 VAR_031156 rs1056408 |
727 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1269222028 CA401827108 |
728 | S>R | No |
ClinGen gnomAD |
No associated diseases with Q9P2N2
4 regional properties for Q9P2N2
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | FKBP-type peptidyl-prolyl cis-trans isomerase domain | 51 - 142 | IPR001179 |
repeat | Tetratricopeptide repeat | 170 - 203 | IPR019734-1 |
repeat | Tetratricopeptide repeat | 218 - 251 | IPR019734-2 |
repeat | Tetratricopeptide repeat | 252 - 285 | IPR019734-3 |
2 GO annotations of cellular component
1 GO annotations of molecular function
Name | Definition |
---|---|
GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
5 GO annotations of biological process
Name | Definition |
---|---|
negative regulation of GTP binding | Any process that stops, prevents or reduces the frequency, rate or extent of GTP binding. |
negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
regulation of actin filament polymerization | Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
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. |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A7E300 | DLC1 | Rho GTPase-activating protein 7 | Bos taurus (Bovine) | SS |
Q14CB8 | ARHGAP19 | Rho GTPase-activating protein 19 | Homo sapiens (Human) | PR |
Q9R0Z9 | Dlc1 | Rho GTPase-activating protein 7 | Mus musculus (Mouse) | SS |
Q8BN58 | Arhgap28 | Rho GTPase-activating protein 28 | Mus musculus (Mouse) | PR |
Q63744 | Dlc1 | Rho GTPase-activating protein 7 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MEVEDSGGVV | LTAYHSYARA | QPPNAESRCA | PRAAASHPLS | RKSIPRCRRI | NRMLSNESLH |
70 | 80 | 90 | 100 | 110 | 120 |
PPAFSRSNSE | ASVDSASMED | FWREIESIKD | SSMGGQEEPP | PAEVTPVDEG | ELEAEWLQDV |
130 | 140 | 150 | 160 | 170 | 180 |
GLSTLISGDE | EEDGKALLST | LTRTQAAAVQ | KRYHTYTQTM | RKKDKQSIRD | VRDIFGVSES |
190 | 200 | 210 | 220 | 230 | 240 |
PPRDTCGNHT | NQLDGTKEER | ELPRVIKTSG | SMPDDASLNS | TTLSDASQDK | EGSFAVPRSD |
250 | 260 | 270 | 280 | 290 | 300 |
SVAILETIPV | LPVHSNGSPE | PGQPVQNAIS | DDDFLEKNIP | PEAEELSFEV | SYSEMVTEAL |
310 | 320 | 330 | 340 | 350 | 360 |
KRNKLKKSEI | KKEDYVLTKF | NVQKTRFGLT | EAGDLSAEDM | KKIRHLSLIE | LTAFFDAFGI |
370 | 380 | 390 | 400 | 410 | 420 |
QLKRNKTEKV | KGRDNGIFGV | PLTVLLDGDR | KKDPGVKVPL | VLQKFFEKVE | ESGLESEGIF |
430 | 440 | 450 | 460 | 470 | 480 |
RLSGCTAKVK | QYREELDAKF | NADKFKWDKM | CHREAAVMLK | AFFRELPTSL | FPVEYIPAFI |
490 | 500 | 510 | 520 | 530 | 540 |
SLMERGPHVK | VQFQALHLMV | MALPDANRDA | AQALMTFFNK | VIANESKNRM | SLWNISTVMA |
550 | 560 | 570 | 580 | 590 | 600 |
PNLFFSRSKH | SDYEELLLAN | TAAHIIRLML | KYQKILWKVP | SFLITQVRRM | NEATMLLKKQ |
610 | 620 | 630 | 640 | 650 | 660 |
LPSVRKLLRR | KTLERETASP | KTSKVLQKSP | SARRMSDVPE | GVIRVHAPLL | SKVSMAIQLN |
670 | 680 | 690 | 700 | 710 | 720 |
NQTKAKDILA | KFQYENSHGS | SECIKIQNQR | LYEIGGNIGE | HCLDPDAYIL | DVYRINPQAE |
WVIKPQQSS |