Q5TEZ5
Gene name |
C6orf163 |
Protein name |
Uncharacterized protein C6orf163 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:206412 |
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 Q5TEZ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5TEZ5-F1 | Predicted | AlphaFoldDB |
234 variants for Q5TEZ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA142870381 rs192134016 |
2 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA364909159 rs935048089 |
6 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs935048089 CA142870383 |
6 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA364909160 rs935048089 |
6 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA142870386 rs183868512 |
8 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA364909216 rs1180136060 |
9 | N>K | No |
ClinGen gnomAD |
|
|
rs1270187083 CA364909252 |
12 | C>F | No |
ClinGen gnomAD |
|
|
rs1480376037 CA364909266 |
13 | C>F | No |
ClinGen gnomAD |
|
|
rs1480376037 CA364909264 |
13 | C>Y | No |
ClinGen gnomAD |
|
|
CA364909294 rs1174963487 |
16 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA142870397 rs939303377 |
18 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA364909348 rs1467024056 |
19 | I>M | No |
ClinGen TOPMed |
|
|
CA364909345 rs1173038763 |
19 | I>R | No |
ClinGen TOPMed |
|
|
CA364909339 rs1404185858 |
19 | I>V | No |
ClinGen TOPMed |
|
|
rs1420016259 CA364909364 |
21 | P>S | No |
ClinGen TOPMed |
|
|
CA3915194 rs143475317 |
22 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1303868729 CA364909383 |
23 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs934122897 CA142870437 |
24 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1169934721 CA364909393 |
24 | P>R | No |
ClinGen gnomAD |
|
|
rs767117567 CA3915195 |
28 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582102137 CA364909435 |
28 | T>P | No |
ClinGen Ensembl |
|
|
rs1466953781 CA364909461 |
30 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1466953781 CA364909459 |
30 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs890000167 CA142870466 |
31 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA142870456 rs771735516 |
31 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1227907073 CA364909493 |
33 | H>Q | No |
ClinGen gnomAD |
|
|
rs1250369129 CA364909494 |
34 | E>K | No |
ClinGen gnomAD |
|
|
CA3915196 rs753075999 |
35 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs756624105 CA3915197 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1291835461 CA364909531 |
38 | L>F | No |
ClinGen gnomAD |
|
|
CA142870483 rs1005802081 |
39 | K>E | No |
ClinGen Ensembl |
|
|
CA142870484 rs529190200 |
41 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA3915198 rs113906669 |
41 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364909613 rs41273287 |
45 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3915199 rs41273287 |
45 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429423978 CA364909628 |
46 | K>E | No |
ClinGen gnomAD |
|
|
CA364909646 rs1285229794 |
47 | D>G | No |
ClinGen TOPMed |
|
|
rs941394435 CA142870511 |
48 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA364909671 rs757661923 |
49 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757661923 CA3915200 |
49 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364910597 rs1262963165 |
50 | D>V | No |
ClinGen gnomAD |
|
|
CA364910611 rs1459638769 |
51 | I>T | No |
ClinGen TOPMed |
|
|
rs1324993433 CA364910606 |
51 | I>V | No |
ClinGen TOPMed |
|
|
rs1562228780 CA364910633 |
53 | A>E | No |
ClinGen Ensembl |
|
|
CA364910627 rs1246560219 |
53 | A>T | No |
ClinGen gnomAD |
|
|
rs1446894201 CA364910646 |
54 | N>S | No |
ClinGen gnomAD |
|
|
CA364910714 rs1562228791 |
59 | E>* | No |
ClinGen Ensembl |
|
|
CA364910720 rs1212246626 |
59 | E>V | No |
ClinGen TOPMed |
|
|
CA364910728 rs1454232823 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA364910746 rs1319869554 |
61 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3915208 rs16879089 |
65 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364910831 rs1257845477 |
66 | I>T | No |
ClinGen TOPMed |
|
|
CA364910825 rs1454378860 |
66 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1582104430 CA364910899 |
71 | I>M | No |
ClinGen Ensembl |
|
|
CA364910907 rs9353479 |
72 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3915209 rs9353479 |
72 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317050032 CA364910915 |
73 | K>E | No |
ClinGen gnomAD |
|
|
CA364910929 rs1562228825 |
74 | A>S | No |
ClinGen Ensembl |
|
|
rs1562228825 CA364910930 |
74 | A>T | No |
ClinGen Ensembl |
|
|
CA364910958 rs1301573043 |
76 | A>V | No |
ClinGen TOPMed |
|
|
CA364910995 rs1367165405 |
79 | W>* | No |
ClinGen TOPMed |
|
|
rs1238954744 CA364911001 |
79 | W>* | No |
ClinGen gnomAD |
|
|
rs1437515942 CA364910993 |
79 | W>R | No |
ClinGen TOPMed |
|
|
CA142873864 rs572429182 |
81 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs764556409 CA3915217 |
83 | N>D | No |
ClinGen ExAC |
|
|
CA364911135 rs1402405689 |
84 | E>K | No |
ClinGen gnomAD |
|
|
CA364911168 rs1166359970 |
85 | R>C | No |
ClinGen TOPMed |
|
|
CA364911172 rs1271119495 |
85 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA364911239 rs1582105296 |
88 | Q>L | No |
ClinGen Ensembl |
|
|
rs952506982 CA142875052 |
90 | V>G | No |
ClinGen TOPMed |
|
|
CA364911308 rs1310876309 |
92 | K>E | No |
ClinGen gnomAD |
|
|
CA364911329 rs1206880002 |
93 | A>S | No |
ClinGen gnomAD |
|
|
CA364911344 rs1233667110 |
94 | L>F | No |
ClinGen gnomAD |
|
|
CA364911349 rs1480315050 |
95 | E>K | No |
ClinGen gnomAD |
|
|
rs79002777 CA142875053 |
97 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 97 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562229282 CA364911380 |
97 | A>T | No |
ClinGen Ensembl |
|
|
rs79002777 CA142875080 |
97 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1456313870 CA364911583 |
105 | I>T | No |
ClinGen TOPMed |
|
|
TCGA novel rs1582105349 CA364911719 |
110 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA364911732 rs1254636451 |
111 | E>G | No |
ClinGen TOPMed |
|
|
rs1214321324 CA364911765 |
113 | Q>H | No |
ClinGen TOPMed |
|
|
CA142875119 rs565892854 |
114 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755157273 CA3915225 |
122 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364913113 rs1334397350 |
124 | K>R | No |
ClinGen TOPMed |
|
|
CA364913123 rs1246066303 |
125 | T>A | No |
ClinGen gnomAD |
|
|
CA364913212 rs1188079978 |
128 | Y>C | No |
ClinGen gnomAD |
|
|
CA364913195 rs1171081134 |
128 | Y>H | No |
ClinGen TOPMed |
|
|
rs200580279 CA142879028 |
131 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 132 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364913332 CA142879035 rs749300402 |
133 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364913310 rs1166387960 |
133 | D>N | No |
ClinGen gnomAD |
|
|
CA3915229 rs373869435 |
134 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3915228 COSM1446315 rs373869435 |
134 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA364913378 rs1323413920 |
135 | M>I | No |
ClinGen gnomAD |
|
|
rs1582108670 CA364913369 |
135 | M>T | No |
ClinGen Ensembl |
|
|
CA364913389 rs1348673308 |
136 | K>N | No |
ClinGen gnomAD |
|
|
rs1403051367 CA364913384 |
136 | K>R | No |
ClinGen Ensembl |
|
|
rs899589749 CA142879065 |
138 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1582108680 CA364913424 |
138 | E>V | No |
ClinGen Ensembl |
|
|
CA364913453 rs1364987082 |
139 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1271106596 CA364913442 |
139 | H>R | No |
ClinGen gnomAD |
|
|
rs548052169 CA142879073 |
144 | Q>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA142879077 rs569592362 |
145 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3915231 rs538272595 |
145 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364913573 rs538272595 |
145 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA142879083 rs549899195 |
147 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs549899195 CA364913636 |
147 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3915232 rs571760546 |
148 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364913668 rs1370496550 |
149 | R>G | No |
ClinGen TOPMed |
|
|
CA142879087 rs879158325 |
152 | R>S | No |
ClinGen Ensembl |
|
|
CA364913769 rs1167263199 |
153 | I>T | No |
ClinGen TOPMed |
|
|
rs538712229 CA142879090 |
154 | M>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs760159153 CA3915233 |
162 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs777119064 CA3915235 COSM1580164 |
163 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1082333 CA364914088 rs1438713654 |
166 | E>G | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 166 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364914105 rs1444666614 |
167 | K>E | No |
ClinGen gnomAD |
|
|
CA3915236 rs762313741 |
169 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA364914146 rs1202329303 |
169 | R>M | No |
ClinGen TOPMed |
|
|
CA364914144 rs1202329303 |
169 | R>T | No |
ClinGen TOPMed |
|
|
CA3915237 rs765464174 |
170 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA364914216 rs1388358512 |
172 | E>D | No |
ClinGen gnomAD |
|
|
rs1227201529 CA364914197 |
172 | E>K | No |
ClinGen TOPMed |
|
|
rs1433367707 CA364914248 |
174 | H>R | No |
ClinGen gnomAD |
|
|
rs759494801 CA3915238 |
175 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364914284 rs1244387542 |
176 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766600195 CA3915240 |
177 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA364914348 rs1422033292 |
179 | A>E | No |
ClinGen gnomAD |
|
|
rs1353003703 CA364914377 |
181 | Q>K | No |
ClinGen gnomAD |
|
|
rs767404600 CA142879182 |
182 | A>S | No |
ClinGen Ensembl |
|
|
rs1225386577 CA364914412 |
183 | Q>* | No |
ClinGen gnomAD |
|
|
CA364916561 rs1337541392 |
186 | K>E | No |
ClinGen gnomAD |
|
|
CA364916587 rs1443042883 |
187 | A>T | No |
ClinGen gnomAD |
|
|
rs114836542 COSM1446317 CA3915244 |
188 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1264749533 CA364916663 |
192 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA142884291 rs895952008 |
195 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs924773933 CA142884292 |
196 | V>I | No |
ClinGen TOPMed |
|
|
rs1472751997 CA364916776 |
198 | V>D | No |
ClinGen TOPMed |
|
|
rs753793927 CA142884295 |
201 | D>N | No |
ClinGen TOPMed |
|
|
rs753793927 CA364916820 |
201 | D>Y | No |
ClinGen TOPMed |
|
|
CA142884303 rs1056890584 |
203 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1056890584 CA364916852 |
203 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA142884307 rs1014421186 |
205 | S>I | No |
ClinGen Ensembl |
|
|
rs1182307699 CA364916915 |
207 | A>P | No |
ClinGen gnomAD |
|
|
rs76230292 CA3915245 |
208 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3915246 rs756871957 |
208 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210419242 CA364916957 |
210 | M>L | No |
ClinGen TOPMed |
|
|
CA142884320 rs888378509 |
213 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1582113266 CA364917016 |
214 | E>* | No |
ClinGen Ensembl |
|
|
rs1465855877 CA364917019 |
214 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA364917026 rs1398940336 |
215 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005874952 CA142884325 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
CA364917307 rs1285188273 |
222 | G>D | No |
ClinGen gnomAD |
|
|
CA142884328 rs367776534 |
222 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1285188273 CA364917309 |
222 | G>V | No |
ClinGen gnomAD |
|
|
CA3915247 rs61740536 |
223 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1232278135 CA364917325 |
225 | Q>P | No |
ClinGen gnomAD |
|
|
rs758177933 CA3915248 |
226 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176443570 CA364917342 |
227 | Q>H | No |
ClinGen gnomAD |
|
|
CA364917352 rs1340998508 |
229 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273263212 CA364917378 |
232 | V>E | No |
ClinGen gnomAD |
|
|
rs1239431276 CA364917377 |
232 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs993570392 CA142884343 |
233 | Q>H | No |
ClinGen TOPMed |
|
|
rs1481824272 CA364917385 |
233 | Q>R | No |
ClinGen gnomAD |
|
|
CA3915249 rs779668933 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA142884346 rs1030386204 |
236 | L>P | No |
ClinGen TOPMed |
|
|
CA142884350 rs745328972 |
239 | A>G | No |
ClinGen Ensembl |
|
|
CA364917465 rs1392885455 |
242 | T>A | No |
ClinGen TOPMed |
|
|
CA364917470 rs1268679700 |
242 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432920841 CA364917486 |
243 | H>Q | No |
ClinGen gnomAD |
|
|
CA3915250 rs771760676 |
246 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375185914 CA364917534 |
248 | G>S | No |
ClinGen gnomAD |
|
|
rs1475853700 CA364917559 |
250 | M>V | No |
ClinGen gnomAD |
|
|
CA364917610 rs1168261505 |
253 | K>I | Variant assessed as Somatic; 0.0001777 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375745961 CA142884372 |
256 | N>D | No |
ClinGen ESP gnomAD |
|
|
CA364917657 rs1479121161 |
257 | T>S | No |
ClinGen TOPMed |
|
|
rs768091881 CA3915251 |
258 | Q>L | No |
ClinGen ExAC |
|
|
CA142884379 rs776135848 |
259 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3915252 rs776135848 |
259 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391402262 CA364917687 |
260 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364917705 rs1298891304 |
261 | L>R | No |
ClinGen gnomAD |
|
|
CA364917740 rs1210444010 |
264 | I>M | No |
ClinGen TOPMed |
|
|
CA364917760 rs1329253313 |
266 | K>R | No |
ClinGen TOPMed |
|
|
CA3915254 rs770366853 |
267 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364917797 rs1369243084 |
269 | G>A | No |
ClinGen TOPMed |
|
|
CA364917795 rs1369243084 |
269 | G>E | No |
ClinGen TOPMed |
|
|
rs1296419866 CA364917804 |
270 | I>L | No |
ClinGen gnomAD |
|
|
rs1339367765 CA364917840 |
273 | N>I | No |
ClinGen gnomAD |
|
|
rs911074226 CA142884413 |
274 | W>* | No |
ClinGen TOPMed |
|
|
rs911074226 CA142884405 |
274 | W>C | No |
ClinGen TOPMed |
|
|
rs1224096626 CA364917845 |
274 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM3831183 rs941258286 CA142884416 |
276 | D>Y | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1562233389 CA364917866 |
277 | F>L | No |
ClinGen Ensembl |
|
|
rs918215443 CA142884425 |
280 | E>D | No |
ClinGen Ensembl |
|
|
CA142884420 rs1038709317 |
280 | E>K | No |
ClinGen Ensembl |
|
|
CA142884440 rs929634763 |
283 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1416429951 CA364917914 |
284 | E>K | No |
ClinGen TOPMed |
|
|
CA364917936 rs1354089824 |
287 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA142884445 rs1056174252 |
291 | K>N | No |
ClinGen TOPMed |
|
|
rs1453581412 CA364917966 |
291 | K>Q | No |
ClinGen TOPMed |
|
|
CA364918001 rs1208632270 |
295 | Y>F | No |
ClinGen gnomAD |
|
|
CA142884451 rs917006970 |
296 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766914244 CA3915258 |
296 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA364918004 rs917006970 |
296 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1188094301 CA364918018 |
298 | P>S | No |
ClinGen gnomAD |
|
|
rs1465292063 CA364918022 |
299 | K>Q | No |
ClinGen TOPMed |
|
|
rs896231969 CA142884459 |
300 | L>R | No |
ClinGen TOPMed |
|
|
rs1446470955 CA364918045 |
302 | P>R | No |
ClinGen gnomAD |
|
|
CA3915259 rs774648848 |
303 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3915260 rs774648848 |
303 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368019111 CA364918055 COSM3669637 |
304 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3915261 rs767654551 |
306 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386778517 CA364918089 |
307 | F>C | No |
ClinGen gnomAD |
|
|
rs1291779107 CA364918083 |
307 | F>L | No |
ClinGen gnomAD |
|
|
rs1319407341 CA364918126 |
310 | P>A | No |
ClinGen gnomAD |
|
|
rs752854622 CA3915262 |
312 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs1233022288 CA364918173 |
313 | K>E | No |
ClinGen TOPMed |
|
|
rs756190189 CA3915263 |
314 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1346183088 CA364918213 |
316 | P>S | No |
ClinGen TOPMed |
|
|
rs748569043 CA142884502 |
318 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364918305 rs1243249852 |
320 | V>I | No |
ClinGen gnomAD |
|
|
CA364918392 rs770114344 |
324 | N>D | No |
ClinGen gnomAD |
|
|
rs74563361 CA142884516 |
324 | N>I | No |
ClinGen Ensembl |
|
|
CA142884511 rs770114344 |
324 | N>Y | No |
ClinGen gnomAD |
|
|
rs758208955 CA3915267 |
325 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462806270 CA364918416 |
325 | K>R | No |
ClinGen gnomAD |
|
|
CA364918446 rs1582113562 |
327 | T>A | No |
ClinGen Ensembl |
|
|
rs772270834 CA142884521 |
329 | D>H | No |
ClinGen Ensembl |
|
|
rs1255552907 CA364918516 |
330 | D>W | No |
ClinGen gnomAD |
No associated diseases with Q5TEZ5
No regional properties for Q5TEZ5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5TEZ5 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3V037 | Gm136 | Uncharacterized protein C6orf163 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIRNSDYKNF | VCCAVCNKII | PPAPFGKTFK | RIHEYKPLKT | RFYTHKDILD | IGANILKKEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QFQEDILREH | IAKAEAEVWA | QANERQKQAV | EKALEEANDR | HKIEIQILKE | EHQKDLQEVT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AKTKTEMYQN | MDDEMKREHL | AAEQRMVHRI | QRIMMECHRE | KVEAVEKARA | EERHIAQEAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QAQKSKAVEE | IVNTGVTVIK | DEKTSVARLM | REKEHEMSIL | YGIAQRQRQE | EVQEVLQEAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KTHQATLGNM | MDKLANTQGE | LLSIAKQLGI | MTNWKDFLEE | ELQETRMAFQ | KYINYTFPKL |
| 310 | 320 | ||||
| SPGHADFILP | ERKKTPSNLV | IKENKTTLD |