Q8WVF1
Gene name |
OSCP1 (C1orf102, NOR1) |
Protein name |
Protein OSCP1 |
Names |
hOSCP1, Organic solute transport protein 1, Oxidored-nitro domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:127700 |
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
1 structures for Q8WVF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WVF1-F1 | Predicted | AlphaFoldDB |
287 variants for Q8WVF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1429742436 CA339407107 |
4 | R>L | No |
ClinGen gnomAD |
|
|
CA339407081 rs1292889460 |
9 | L>P | No |
ClinGen gnomAD |
|
|
rs1488362836 CA339407083 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339407049 rs1340386682 |
13 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339407045 rs1274156684 |
14 | G>D | No |
ClinGen gnomAD |
|
|
rs978058314 CA20729009 |
15 | G>E | No |
ClinGen TOPMed |
|
|
rs766658594 CA768513 |
16 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1385304768 CA339407025 |
17 | M>T | No |
ClinGen Ensembl |
|
|
CA768512 rs758591420 |
18 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201190612 CA20728999 |
22 | D>H | No |
ClinGen Ensembl |
|
|
CA768510 rs763901874 |
23 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768511 rs763901874 |
23 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339406873 rs1407757557 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs1168813840 CA339406866 |
27 | A>T | No |
ClinGen gnomAD |
|
|
rs11547025 CA768508 |
31 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_027741 rs11547025 CA768507 |
31 | P>R | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1174592927 CA339406830 |
32 | G>E | No |
ClinGen gnomAD |
|
|
CA768504 rs151311655 |
33 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748897051 CA768503 |
34 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339406818 rs1202099444 |
34 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1214340404 CA339406805 |
36 | R>C | No |
ClinGen TOPMed |
|
|
rs1196567549 CA339406793 |
38 | D>N | No |
ClinGen gnomAD |
|
|
CA339406552 rs1213735566 |
40 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339406504 rs1416567213 |
44 | D>G | No |
ClinGen TOPMed |
|
|
rs757388284 CA768475 |
44 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs572607037 CA768474 |
46 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA768473 rs781084547 |
47 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754993816 CA768472 |
47 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1365153015 CA339406465 |
48 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367744818 CA339405772 |
50 | N>H | No |
ClinGen gnomAD |
|
|
rs1166896118 CA339405750 |
51 | D>G | No |
ClinGen gnomAD |
|
|
rs746783723 CA768454 |
52 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768453 rs553056470 |
54 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169595097 CA339405689 |
56 | M>T | No |
ClinGen gnomAD |
|
|
rs969767873 CA20723841 |
57 | F>L | No |
ClinGen Ensembl |
|
|
rs563074314 CA768452 |
58 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403825136 CA339405644 |
59 | R>T | No |
ClinGen TOPMed |
|
|
rs1490772004 CA339405601 |
62 | M>T | No |
ClinGen gnomAD |
|
|
rs771318760 CA768450 |
62 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339405590 rs1249188671 |
63 | E>K | No |
ClinGen gnomAD |
|
|
rs753422853 CA768448 |
68 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA339405497 rs1274427405 |
69 | Q>* | No |
ClinGen gnomAD |
|
|
rs373258386 CA768446 |
70 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373258386 CA339405484 |
70 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768117356 CA768444 |
72 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768117356 CA768445 |
72 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768443 rs186694883 |
73 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1184367836 CA339405423 |
74 | K>N | No |
ClinGen gnomAD |
|
|
CA768442 rs182337804 |
74 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339405419 rs1444303851 |
75 | K>E | No |
ClinGen gnomAD |
|
|
rs1254146105 CA339405416 |
75 | K>T | No |
ClinGen gnomAD |
|
|
CA768441 rs369020817 |
76 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA768438 rs770134126 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1412800249 CA339405354 |
81 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1412800249 CA339405353 |
81 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA768436 rs201381707 |
82 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145212649 CA768435 |
83 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA768433 rs144226900 |
83 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA768434 rs144226900 |
83 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283221807 CA339405307 |
85 | A>G | No |
ClinGen TOPMed |
|
|
CA20723779 rs756663980 |
85 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756663980 CA768432 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA768431 rs368502494 |
86 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246237800 CA339405296 |
86 | H>Y | No |
ClinGen gnomAD |
|
|
CA20723764 rs760388357 |
88 | S>Y | No |
ClinGen Ensembl |
|
|
rs755740191 CA768429 |
93 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs973515410 CA20723735 |
94 | Q>E | No |
ClinGen TOPMed |
|
|
CA339405210 rs1204796810 |
94 | Q>P | No |
ClinGen gnomAD |
|
|
rs1326122701 CA339405205 |
95 | A>T | No |
ClinGen gnomAD |
|
|
rs1403739444 CA339405186 |
97 | M>R | No |
ClinGen TOPMed |
|
|
rs1470845360 CA339405190 |
97 | M>V | No |
ClinGen TOPMed |
|
|
rs753081230 CA768428 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339405173 rs1223577856 |
99 | K>* | No |
ClinGen gnomAD |
|
|
rs767733052 CA768427 |
99 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs767733052 CA339405172 |
99 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs771698761 CA768416 |
101 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA768415 rs202016130 |
105 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770900052 CA768414 |
106 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs748844782 CA768412 |
106 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770900052 CA768413 |
106 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777215154 CA768411 |
108 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs139145594 CA768410 |
110 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755279719 CA768409 |
111 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781626400 CA768408 |
112 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs751944917 CA768406 |
115 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA768405 rs766831925 |
116 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339420980 rs1164982562 |
117 | R>* | No |
ClinGen gnomAD |
|
|
rs142000188 CA768403 |
117 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142000188 CA768404 |
117 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146099595 CA768402 |
119 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339420894 rs1244136796 |
122 | L>V | No |
ClinGen gnomAD |
|
|
rs1038126675 CA20745179 |
123 | L>R | No |
ClinGen TOPMed |
|
|
rs1359075675 CA339420861 |
125 | T>A | No |
ClinGen gnomAD |
|
|
rs762135024 CA768401 |
127 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759316663 CA768398 |
132 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339420729 rs1312598755 |
133 | K>E | No |
ClinGen TOPMed |
|
|
CA339420696 rs1366897149 |
135 | F>C | No |
ClinGen gnomAD |
|
|
CA768396 rs770874928 |
135 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768395 rs749183092 |
137 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768394 rs777268483 |
137 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769235150 CA768393 |
138 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339420662 rs1444020145 |
138 | D>N | No |
ClinGen TOPMed |
|
|
VAR_056958 rs34409118 CA768390 |
141 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766674301 CA768388 |
142 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754625448 CA768389 |
142 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780420977 CA768387 |
143 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA339420546 rs1269909149 |
144 | Q>* | No |
ClinGen gnomAD |
|
|
rs1051732424 CA20745055 |
144 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1035063279 CA20745066 |
144 | Q>L | No |
ClinGen Ensembl |
|
|
rs759008005 CA768386 |
145 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762043052 CA339420445 |
148 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339420449 rs1457418004 |
148 | E>G | No |
ClinGen TOPMed |
|
|
CA768384 rs765420878 |
148 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768382 rs753948955 |
149 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA768380 rs568837298 |
150 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141201826 CA768378 |
151 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA768379 rs774044342 |
151 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386822449 CA339420303 |
154 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 155 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA768358 rs765205202 |
156 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1309972412 CA339420118 |
156 | I>T | No |
ClinGen TOPMed |
|
|
rs772957430 CA768359 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA20744588 rs777198609 |
157 | Y>C | No |
ClinGen TOPMed |
|
|
CA339420105 rs1242367113 |
157 | Y>D | No |
ClinGen TOPMed |
|
|
rs539778629 CA768357 |
158 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1570521592 CA339420062 |
159 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339420009 rs1316920110 |
162 | A>T | No |
ClinGen gnomAD |
|
|
rs150943653 CA768354 |
164 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339419948 rs1461767006 |
165 | F>C | No |
ClinGen gnomAD |
|
|
CA768352 rs373786872 |
169 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569111580 CA768353 COSM1342319 COSM1342320 |
169 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA20744527 rs773468810 |
170 | Q>* | No |
ClinGen Ensembl |
|
|
rs746276623 CA768351 |
171 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA768348 rs550353114 |
174 | I>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA768349 rs550353114 |
174 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs779402031 CA339419686 |
180 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339419680 rs1420935726 |
181 | I>V | No |
ClinGen TOPMed |
|
|
rs757734143 CA768346 |
182 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749734102 CA339419660 |
182 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749734102 CA768345 |
182 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339417533 rs1384568854 |
183 | V>G | No |
ClinGen gnomAD |
|
|
rs1243046445 CA339417546 COSM224157 |
183 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA339417527 rs1204731584 |
184 | S>F | No |
ClinGen gnomAD |
|
|
rs1314267212 CA339417518 |
185 | M>V | No |
ClinGen gnomAD |
|
|
rs1223370177 CA339417448 |
190 | K>E | No |
ClinGen gnomAD |
|
|
rs1351661519 CA339417414 |
192 | Q>E | No |
ClinGen gnomAD |
|
|
CA339417407 rs1311646423 |
192 | Q>R | No |
ClinGen gnomAD |
|
|
rs372876354 CA768281 |
194 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA768280 rs777180611 |
194 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs138506112 CA339417341 |
196 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA768278 rs138506112 |
196 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA768277 rs149060854 |
197 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339417323 rs1381747301 |
197 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA20739081 rs1005351722 |
201 | P>L | No |
ClinGen TOPMed |
|
|
rs901942787 CA20739055 |
202 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 202 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756028464 CA768273 |
204 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1375707094 CA339417198 |
205 | P>T | No |
ClinGen gnomAD |
|
|
CA768271 rs781313667 |
207 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215519694 CA339417092 |
210 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1354985286 CA339417049 |
212 | V>A | No |
ClinGen TOPMed |
|
|
CA768270 rs754942961 |
213 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339417024 rs1288403761 |
215 | L>H | No |
ClinGen gnomAD |
|
|
CA768269 rs751102022 |
216 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1007524321 CA20739011 |
216 | I>T | No |
ClinGen Ensembl |
|
|
rs1223823341 CA339416837 |
218 | M>T | No |
ClinGen gnomAD |
|
|
rs1305745796 CA339416686 COSM1218950 |
223 | G>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA339416683 rs1294707344 |
223 | G>D | No |
ClinGen gnomAD |
|
|
CA768252 rs754996087 |
225 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA768253 rs781084723 |
225 | E>Q | No |
ClinGen ExAC |
|
|
rs762440629 CA20738669 |
227 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 227 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA768251 rs371086943 |
227 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416840 CA768250 |
229 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1404009959 CA339416519 |
230 | E>G | No |
ClinGen gnomAD |
|
|
CA768249 rs757905867 |
233 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA339416424 rs1364948246 |
234 | G>A | No |
ClinGen gnomAD |
|
|
rs910630258 CA20738655 |
234 | G>S | No |
ClinGen Ensembl |
|
|
CA768248 rs749945990 |
235 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339416397 rs1240871404 |
236 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986210626 CA20738633 |
240 | A>T | No |
ClinGen Ensembl |
|
|
VAR_027742 CA20738661 rs2359016 |
242 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA768247 rs764909849 |
243 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756885060 CA768246 |
244 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339416100 rs1197698787 |
249 | Y>F | No |
ClinGen gnomAD |
|
|
rs754226924 CA768245 |
249 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761252936 CA768243 |
252 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA768244 rs761252936 |
252 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM77373 CA768242 rs753198894 |
252 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA339416058 rs1368609358 |
253 | V>D | No |
ClinGen TOPMed |
|
|
CA339416061 rs1479675148 |
253 | V>I | No |
ClinGen gnomAD |
|
|
rs1250692472 CA339416029 |
256 | L>P | No |
ClinGen gnomAD |
|
|
rs1305290068 CA339415987 |
259 | N>I | No |
ClinGen TOPMed |
|
|
CA20738572 rs373081087 |
260 | M>K | No |
ClinGen ESP |
|
|
rs17442970 CA768226 |
263 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17442970 CA768227 |
263 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1287322283 CA339415813 |
265 | Q>* | No |
ClinGen TOPMed |
|
|
rs1236361726 CA339415730 |
270 | H>P | No |
ClinGen gnomAD |
|
|
CA768222 rs767954254 |
274 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs751718991 CA768220 |
276 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA768218 rs763280071 |
278 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA339415549 rs1304944200 |
279 | A>G | No |
ClinGen gnomAD |
|
|
rs1049019255 CA20738312 |
280 | S>L | No |
ClinGen TOPMed |
|
|
CA339415502 rs1570501063 |
281 | W>R | No |
ClinGen Ensembl |
|
|
rs547852096 CA20738309 |
282 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs547852096 CA339415476 |
282 | T>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1253602336 CA339414388 |
284 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA768203 rs202237610 |
286 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339414349 rs1570498349 |
288 | P>S | No |
ClinGen Ensembl |
|
|
CA339414315 rs1162993844 |
291 | L>H | No |
ClinGen gnomAD |
|
|
CA768201 rs758620253 |
293 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20737547 rs925041588 |
294 | E>* | No |
ClinGen gnomAD |
|
|
rs750501736 CA768200 |
296 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263460054 CA339414227 |
299 | L>S | No |
ClinGen gnomAD |
|
|
rs765427269 CA768199 |
303 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339414175 rs1341812616 |
304 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339414149 CA339414152 rs1290481254 |
306 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA768198 rs762046311 |
307 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs140749623 CA768197 |
307 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767280774 CA768196 |
308 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA768195 rs759486383 |
311 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA20737510 rs1036098759 |
313 | G>S | No |
ClinGen TOPMed |
|
|
CA768193 rs2275477 |
317 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA768192 rs748843097 |
318 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748893476 CA768191 |
319 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406005863 CA339414026 |
319 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339414017 rs1166015570 |
320 | L>S | No |
ClinGen gnomAD |
|
|
CA339413959 rs199901207 |
324 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199901207 CA768189 |
324 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339413947 rs1458987459 |
325 | T>I | No |
ClinGen TOPMed |
|
|
CA768186 rs148013964 |
326 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA768185 rs186698173 |
330 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA768163 rs567565665 |
333 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756278342 CA768160 |
339 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 340 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374472163 CA768158 |
342 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA768157 rs762890061 |
344 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339413455 rs1377580266 |
347 | I>M | No |
ClinGen gnomAD |
|
|
rs1304447407 CA339413463 |
347 | I>V | No |
ClinGen TOPMed |
|
|
rs1570495217 CA339413423 |
350 | T>P | No |
ClinGen Ensembl |
|
|
CA768128 rs771851049 |
355 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA768129 rs148820896 |
355 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339413214 rs1229854981 |
357 | E>D | No |
ClinGen gnomAD |
|
|
rs372240068 CA768127 |
357 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA768126 rs774526032 |
358 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768125 rs771495318 |
358 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768124 rs749688697 |
359 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341955121 CA339413192 |
360 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1341955121 CA339413193 |
360 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA20736141 rs552863417 |
361 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA20736147 rs552863417 |
361 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769918188 CA768122 |
361 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748219697 CA768121 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA768120 rs781432899 |
365 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755132364 CA768119 |
366 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA339413085 rs778532589 |
368 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA768116 rs757225346 |
369 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1286980837 CA339413070 |
370 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1452991218 CA339413053 |
371 | Q>K | No |
ClinGen TOPMed |
|
|
rs755756324 CA768113 |
373 | R>K | No |
ClinGen ExAC |
|
|
rs1247222519 CA339413021 |
373 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA768111 rs151147935 |
375 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA768109 rs151147935 |
375 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA768110 rs151147935 |
375 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339412991 rs1394685771 |
376 | T>N | No |
ClinGen TOPMed |
|
|
CA20736035 rs17851612 |
377 | S>G | No |
ClinGen Ensembl |
|
|
CA768107 rs556610510 |
377 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773773589 CA768106 |
379 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776644354 CA768103 |
381 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339412933 rs776644354 |
381 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA768102 rs747136536 |
384 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA768101 rs747136536 |
384 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA768100 rs374436783 |
385 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA768099 rs757060476 |
387 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs371467203 CA768098 |
388 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763283490 CA768095 |
390 | L>A | No |
ClinGen ExAC gnomAD |
|
|
CA768096 rs759325013 |
390 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8WVF1
No regional properties for Q8WVF1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WVF1 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| xenobiotic detoxification by transmembrane export across the plasma membrane | A process that reduces or removes the toxicity of a xenobiotic by exporting it outside the cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVRTLPLLF | LNLGGEMLYI | LDQRLRAQNI | PGDKARKDEW | TEVDRKRVLN | DIISTMFNRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FMEELFKPQE | LYSKKALRTV | YERLAHASIM | KLNQASMDKL | YDLMTMAFKY | QVLLCPRPKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLLVTFNHLD | TIKGFIRDSP | TILQQVDETL | RQLTEIYGGL | SAGEFQLIRQ | TLLIFFQDLH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRVSMFLKDK | VQNNNGRFVL | PVSGPVPWGT | EVPGLIRMFN | NKGEEVKRIE | FKHGGNYVPA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKEGSFELYG | DRVLKLGTNM | YSVNQPVETH | VSGSSKNLAS | WTQESIAPNP | LAKEELNFLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLMGGMEIKK | PSGPEPGFRL | NLFTTDEEEE | QAALTRPEEL | SYEVINIQAT | QDQQRSEELA |
| 370 | 380 | ||||
| RIMGEFEITE | QPRLSTSKGD | DLLAMMDEL |