Q6UWD8
PR
Gene name |
C16orf54 (UNQ9389/PRO34280) |
Protein name |
Transmembrane protein C16orf54 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:283897 |
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 Q6UWD8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6UWD8-F1 | Predicted | AlphaFoldDB |
210 variants for Q6UWD8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7992765 rs753418533 |
2 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7992764 rs753418533 |
2 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746501283 CA7992766 |
2 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1251750948 CA395449558 |
4 | T>I | No |
ClinGen TOPMed |
|
|
CA7992762 rs778891048 |
6 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7992761 rs757031853 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1015787790 CA280375104 |
8 | P>L | No |
ClinGen TOPMed |
|
|
CA280375097 rs969741387 |
9 | S>Y | No |
ClinGen TOPMed |
|
|
rs752832049 CA7992757 |
10 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7992755 rs760077380 |
11 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7992756 rs760077380 |
11 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3402254 CA7992754 rs774872519 |
11 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395449524 rs760077380 |
11 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374180124 CA7992752 |
12 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280375080 rs955958636 |
14 | G>E | No |
ClinGen TOPMed |
|
|
CA7992750 rs768256621 |
15 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs376393110 CA7992751 |
15 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376393110 CA280375074 |
15 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1341758429 CA395449498 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7992748 rs775186423 |
17 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs771675299 CA7992746 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7992745 rs745329582 |
18 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779014114 CA7992744 |
26 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1596818163 CA395449422 |
28 | C>Y | No |
ClinGen Ensembl |
|
|
CA395449415 rs1487227153 |
29 | G>W | No |
ClinGen Ensembl |
|
|
CA395449407 rs1398580333 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA7992742 rs749041572 |
30 | P>T | No |
ClinGen ExAC |
|
|
CA7992740 rs756341447 |
31 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs752887121 CA7992738 |
33 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7992737 rs781355195 |
34 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1267922592 CA395449375 |
35 | M>I | No |
ClinGen gnomAD |
|
|
CA395449367 rs1035799601 |
37 | V>I | No |
ClinGen TOPMed |
|
|
rs1035799601 CA280375031 |
37 | V>L | No |
ClinGen TOPMed |
|
|
rs766804316 CA7992734 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395449327 rs1245745595 |
44 | L>F | No |
ClinGen TOPMed |
|
|
rs1253715106 CA395449314 |
46 | I>V | No |
ClinGen gnomAD |
|
|
rs1231843174 CA395449301 |
48 | T>A | No |
ClinGen gnomAD |
|
|
rs763508571 CA7992733 |
48 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1231843174 CA395449302 |
48 | T>P | No |
ClinGen gnomAD |
|
|
rs763508571 CA395449298 |
48 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs750807770 CA7992732 |
49 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140490612 COSM301804 CA7992730 |
50 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 50 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466320646 CA395449270 |
53 | A>D | No |
ClinGen gnomAD |
|
|
CA280375002 rs370898520 |
55 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA395449258 COSM969631 rs1171068332 |
55 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs998295941 CA280374997 |
57 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200439714 CA7992727 |
58 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200964810 CA7992726 |
58 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7992725 rs201110852 |
59 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753940451 CA280374986 |
59 | R>H | No |
ClinGen TOPMed |
|
|
rs1483386520 CA395449228 |
60 | A>V | No |
ClinGen gnomAD |
|
|
rs1009448985 CA280374983 |
62 | R>C | No |
ClinGen Ensembl |
|
|
CA7992724 rs770832221 |
62 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395449215 rs1253589186 |
63 | P>S | No |
ClinGen gnomAD |
|
|
CA395449208 rs1596818073 |
64 | D>A | No |
ClinGen Ensembl |
|
|
CA7992723 rs749227397 CA395449205 |
64 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345031165 CA395449204 |
65 | P>T | No |
ClinGen gnomAD |
|
|
CA7992722 rs376044334 |
66 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395449192 rs1237126518 |
66 | S>R | No |
ClinGen gnomAD |
|
|
CA7992721 rs769664424 |
67 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs760706108 CA395449183 |
68 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs760706108 CA280374970 |
68 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7992720 rs539006493 COSM417057 |
68 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7992719 rs781408664 |
69 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755129808 CA7992718 |
71 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7992716 rs780165473 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA395449148 rs1417759776 |
74 | W>* | No |
ClinGen gnomAD |
|
|
CA7992715 rs758874736 |
75 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395449128 rs1471007854 |
78 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1442702229 CA395449093 |
83 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280374947 rs916939664 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs916939664 CA395449085 |
84 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1209539558 CA395449074 |
85 | M>I | No |
ClinGen TOPMed |
|
|
rs1481957646 CA395449079 |
85 | M>V | No |
ClinGen TOPMed |
|
|
CA280374944 rs113304298 |
86 | G>C | No |
ClinGen Ensembl |
|
|
rs868589963 CA280374941 |
86 | G>D | No |
ClinGen Ensembl |
|
|
rs372993933 COSM1198174 CA7992712 |
88 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs944203939 CA280374936 |
89 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs143391821 CA7992711 |
89 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1420086650 CA395449049 |
90 | E>G | No |
ClinGen TOPMed |
|
|
rs767282348 CA7992710 |
91 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280374929 rs982919079 |
91 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA280374926 rs982919079 |
91 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1341344153 CA395449028 |
94 | D>N | No |
ClinGen gnomAD |
|
|
rs1314793223 CA395449023 |
94 | D>V | No |
ClinGen gnomAD |
|
|
rs1375973781 CA395449013 |
95 | W>C | No |
ClinGen TOPMed |
|
|
CA395449005 rs1416593789 |
96 | Y>* | No |
ClinGen TOPMed |
|
|
rs773782853 CA7992708 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA395448994 rs1298665452 |
98 | S>C | No |
ClinGen gnomAD |
|
|
CA7992707 rs535090241 |
99 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7992705 rs773226713 |
100 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472904677 CA395448977 |
101 | P>L | No |
ClinGen gnomAD |
|
|
rs866437101 CA280374915 |
104 | T>I | No |
ClinGen Ensembl |
|
|
CA7992704 rs374762176 |
105 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395448943 rs747945510 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1377244 rs796580121 CA280374907 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs747945510 CA7992703 |
106 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776410013 CA7992702 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1280484384 CA395448930 |
107 | A>V | No |
ClinGen TOPMed |
|
|
rs933787869 CA280374904 |
108 | P>L | No |
ClinGen Ensembl |
|
|
CA280374903 rs1002996755 |
109 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1203583486 CA395448892 |
112 | T>P | No |
ClinGen TOPMed |
|
|
rs1357531941 CA395448871 |
114 | V>M | No |
ClinGen gnomAD |
|
|
CA395448860 rs1295295488 |
115 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395448832 rs1339938191 |
118 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7992701 rs768920094 |
119 | A>S | No |
ClinGen ExAC |
|
|
rs1278984804 CA395448816 |
119 | A>V | No |
ClinGen gnomAD |
|
|
CA395448813 rs1020766444 |
120 | R>* | No |
ClinGen TOPMed |
|
|
rs1020766444 CA280374899 |
120 | R>G | No |
ClinGen TOPMed |
|
|
CA395448809 rs200945943 |
120 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200945943 CA7992700 |
120 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348094286 CA395448805 |
121 | A>T | No |
ClinGen gnomAD |
|
|
rs1322848762 CA395448790 |
122 | T>I | No |
ClinGen gnomAD |
|
|
rs1326706780 CA395448788 |
123 | A>T | No |
ClinGen TOPMed |
|
|
rs1396427022 CA395448775 |
124 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1168008485 CA395448756 |
126 | A>D | No |
ClinGen gnomAD |
|
|
CA395448748 rs1464839032 |
127 | P>L | No |
ClinGen gnomAD |
|
|
CA7992699 rs780034430 |
127 | P>S | No |
ClinGen ExAC |
|
|
rs537044537 CA280374890 |
128 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1245443050 CA395448723 |
131 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1212305688 CA395448701 |
133 | A>P | No |
ClinGen TOPMed |
|
|
rs745884376 CA7992697 |
134 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7992696 rs779485804 |
134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275517060 CA395448676 |
135 | S>R | No |
ClinGen gnomAD |
|
|
rs1251571319 CA395448687 |
135 | S>R | No |
ClinGen TOPMed |
|
|
rs1246008452 CA395448656 |
138 | G>S | No |
ClinGen Ensembl |
|
|
rs1255143606 CA395448636 |
140 | Q>* | No |
ClinGen TOPMed |
|
|
CA280374878 rs373101692 |
140 | Q>H | No |
ClinGen Ensembl |
|
|
rs1255143606 CA395448637 |
140 | Q>K | No |
ClinGen TOPMed |
|
|
rs754320429 CA7992694 |
142 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418696508 CA395448608 |
143 | L>Q | No |
ClinGen TOPMed |
|
|
rs1365612285 CA395448594 |
145 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395448570 rs1354887177 |
147 | A>G | No |
ClinGen gnomAD |
|
|
CA395448573 rs1567343698 |
147 | A>S | No |
ClinGen Ensembl |
|
|
rs943755188 CA280374866 |
148 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1437112865 CA395448559 |
149 | S>I | No |
ClinGen gnomAD |
|
|
CA280374863 rs908310717 |
151 | F>S | No |
ClinGen gnomAD |
|
|
CA395448533 rs1329117363 |
153 | G>R | No |
ClinGen gnomAD |
|
|
rs754718868 CA7992692 |
157 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975367643 CA280374854 |
158 | E>G | No |
ClinGen Ensembl |
|
|
rs1423868141 CA395448499 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA395448493 CA395448492 rs1172502640 |
159 | G>R | No |
ClinGen gnomAD |
|
|
CA280374851 rs957256763 |
160 | R>S | No |
ClinGen gnomAD |
|
|
CA395448478 rs1047192975 |
161 | P>H | No |
ClinGen gnomAD |
|
|
rs1047192975 CA280374849 |
161 | P>R | No |
ClinGen gnomAD |
|
|
rs1372729796 CA395448475 |
162 | P>A | No |
ClinGen TOPMed |
|
|
rs765900368 CA7992690 |
163 | A>P | No |
ClinGen ExAC |
|
| rs779355314 | 163 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 163 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1609179 rs765900368 CA395448470 |
163 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1216451990 CA395448460 |
164 | T>I | No |
ClinGen Ensembl |
|
|
rs762540464 CA7992688 |
165 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA395448438 rs1206909253 |
168 | S>N | No |
ClinGen gnomAD |
|
|
rs1216867159 CA395448437 |
168 | S>R | No |
ClinGen TOPMed |
|
|
rs1318755282 CA395448431 |
169 | W>S | No |
ClinGen gnomAD |
|
|
CA395448421 rs1271856966 |
170 | A>V | No |
ClinGen TOPMed |
|
|
rs1596817808 CA395448415 |
171 | E>D | No |
ClinGen Ensembl |
|
|
rs533076739 CA7992686 |
171 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1334555652 CA395448408 |
172 | P>L | No |
ClinGen TOPMed |
|
|
CA280374832 rs866981402 |
173 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395448407 rs866981402 |
173 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7992685 rs761730713 |
175 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA395448390 rs761730713 |
175 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs776454986 CA7992684 |
178 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7992683 rs768406355 |
178 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7992681 rs199652256 COSM3402253 |
180 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7992680 rs199652256 |
180 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1358061764 CA395448344 |
182 | F>S | No |
ClinGen gnomAD |
|
|
rs745963912 CA7992679 |
183 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395448332 rs1435855993 |
184 | S>N | No |
ClinGen gnomAD |
|
|
CA395448324 rs1397384426 |
185 | P>H | No |
ClinGen gnomAD |
|
|
rs1439410404 CA395448319 |
186 | Q>* | No |
ClinGen gnomAD |
|
|
rs1460664704 CA395448307 |
188 | R>G | No |
ClinGen TOPMed |
|
|
CA395448298 rs1211737908 |
189 | R>K | No |
ClinGen gnomAD |
|
|
CA395448290 rs1486710824 |
190 | Q>R | No |
ClinGen gnomAD |
|
|
rs200313763 CA7992675 |
191 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM435068 CA7992676 rs35764197 |
191 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs978485481 CA280374799 |
192 | P>R | No |
ClinGen TOPMed |
|
|
CA395448280 rs1316976170 |
192 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA395448275 rs1308958053 |
193 | G>R | No |
ClinGen gnomAD |
|
|
CA395448268 rs1432311710 |
194 | S>I | No |
ClinGen TOPMed |
|
|
rs981449979 CA280374797 |
195 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395448257 rs1295556899 |
196 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 197 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752949285 CA7992673 |
200 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752949285 CA395448223 |
200 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395448219 rs1204734342 |
201 | L>H | No |
ClinGen TOPMed |
|
|
rs1419691861 CA395448204 |
203 | P>R | No |
ClinGen gnomAD |
|
|
rs1296818682 CA395448206 |
203 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1296818682 CA395448208 |
203 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7992670 rs750011567 COSM1609178 |
204 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1128991 rs190639748 CA7992671 |
204 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA280374784 rs772533275 |
206 | T>I | No |
ClinGen Ensembl |
|
|
rs1474872800 CA395448172 |
209 | Q>E | No |
ClinGen TOPMed |
|
|
CA7992666 rs763967256 |
211 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1261126909 CA395448149 |
212 | A>D | No |
ClinGen gnomAD |
|
|
rs1215796465 CA395448140 |
213 | F>L | No |
ClinGen gnomAD |
|
|
rs760531312 CA7992665 |
214 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775079638 CA7992664 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775549533 CA7992663 |
216 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201665846 CA280374762 |
218 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7992662 rs201665846 |
218 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771166622 CA7992660 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774614027 CA7992661 |
219 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1361649416 CA395448098 |
221 | S>R | No |
ClinGen gnomAD |
|
|
rs749333124 CA7992659 |
222 | V>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6UWD8
No regional properties for Q6UWD8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6UWD8 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
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 |
|---|---|---|---|---|
| Q8C708 | Transmembrane protein C16orf54 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLTPEPPSG | RVEGPPAWEA | APWPSLPCGP | CIPIMLVLAT | LAALFILTTA | VLAERLFRRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRPDPSHRAP | TLVWRPGGEL | WIEPMGTARE | RSEDWYGSAV | PLLTDRAPEP | PTQVGTLEAR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATAPPAPSAP | NSAPSNLGPQ | TVLEVPARST | FWGPQPWEGR | PPATGLVSWA | EPEQRPEASV |
| 190 | 200 | 210 | 220 | ||
| QFGSPQARRQ | RPGSPDPEWG | LQPRVTLEQI | SAFWKREGRT | SVGF |