Q5W0B7
PR
Gene name |
TMEM236 (FAM23A, FAM23B) |
Protein name |
Transmembrane protein 236 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:653567 |
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 Q5W0B7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5W0B7-F1 | Predicted | AlphaFoldDB |
244 variants for Q5W0B7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 5 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376209516 rs1208551216 |
6 | L>R | No |
ClinGen TOPMed |
|
|
rs1006791460 CA203664727 |
10 | V>M | No |
ClinGen TOPMed |
|
|
rs1238445089 CA376209557 |
12 | F>L | No |
ClinGen TOPMed |
|
|
rs1374868766 CA376209568 |
14 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376209579 rs1564590511 |
16 | E>Q | No |
ClinGen Ensembl |
|
|
rs1447877746 CA376209590 |
17 | F>S | No |
ClinGen TOPMed |
|
|
CA203664734 rs1017241917 |
19 | A>S | No |
ClinGen TOPMed |
|
|
CA203664731 rs1017241917 |
19 | A>T | No |
ClinGen TOPMed |
|
|
CA376209610 CA203664735 rs962755778 |
20 | F>L | No |
ClinGen TOPMed |
|
|
CA376209607 rs1325020180 |
20 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376209631 rs1469185555 |
24 | T>A | No |
ClinGen TOPMed |
|
|
CA376209637 rs1378018740 |
25 | L>F | No |
ClinGen TOPMed |
|
|
CA376209642 rs1439969071 |
26 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 29 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971453977 CA203664739 |
29 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203664750 rs927472313 |
34 | A>S | No |
ClinGen TOPMed |
|
|
CA203664742 rs927472313 |
34 | A>T | No |
ClinGen TOPMed |
|
|
rs1288316094 CA376209712 |
36 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241107661 CA376209725 |
38 | T>K | No |
ClinGen TOPMed |
|
|
TCGA novel CA376209732 rs1589136284 |
39 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA376209744 rs1370572584 |
41 | R>I | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990433875 CA203664772 |
43 | D>H | No |
ClinGen TOPMed |
|
|
CA376209757 rs1332685822 |
43 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 50 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203664776 rs914778000 |
52 | S>F | No |
ClinGen TOPMed |
|
|
rs1419881477 CA376209850 |
56 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564590552 CA376209870 |
59 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1171123599 CA376209888 |
62 | T>S | No |
ClinGen TOPMed |
|
|
rs1479208259 CA376209897 |
64 | L>Q | No |
ClinGen TOPMed |
|
|
rs1042036658 CA203664779 |
65 | I>V | No |
ClinGen TOPMed |
|
|
CA203664782 CA376209914 rs902302976 |
66 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376209915 rs933719953 |
67 | V>I | No |
ClinGen TOPMed |
|
|
CA203664786 rs933719953 |
67 | V>L | No |
ClinGen TOPMed |
|
|
CA203664800 rs889646618 |
68 | P>H | No |
ClinGen TOPMed |
|
|
CA203664795 rs1051397245 |
68 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1275273399 CA376209946 |
72 | I>F | No |
ClinGen TOPMed |
|
|
CA376209952 rs1338372933 |
73 | L>V | No |
ClinGen TOPMed |
|
|
rs1299441771 CA376209965 |
75 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203664816 rs1007107721 |
77 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA203664817 rs1016859711 |
77 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 79 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376209995 rs1415873304 |
79 | I>S | No |
ClinGen TOPMed |
|
|
CA376210025 rs1167729587 |
83 | I>N | No |
ClinGen TOPMed |
|
|
CA376210023 rs1426279247 |
83 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210075 rs1554834795 |
87 | R>T | No |
ClinGen gnomAD |
|
|
rs1554834797 CA376210083 |
88 | P>R | No |
ClinGen gnomAD |
|
|
CA5427977 rs782086206 |
89 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs909454415 CA203672472 |
90 | L>P | No |
ClinGen Ensembl |
|
|
CA376210111 rs1272282642 |
92 | M>I | No |
ClinGen TOPMed |
|
|
CA376210108 rs1554834801 |
92 | M>K | No |
ClinGen gnomAD |
|
|
CA5427979 rs532491549 |
94 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371751428 CA5427981 |
95 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782797295 CA5427982 |
98 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781904791 CA5427983 |
101 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210162 rs1589145011 |
101 | C>Y | No |
ClinGen Ensembl |
|
|
CA376210167 rs1589145020 |
102 | L>I | No |
ClinGen Ensembl |
|
|
rs782721256 CA5427986 |
104 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210198 rs1554834805 |
106 | I>T | No |
ClinGen gnomAD |
|
|
CA376210195 rs1589145032 |
106 | I>V | No |
ClinGen Ensembl |
|
|
rs373801362 CA5427988 |
107 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554834807 CA376210221 |
109 | T>A | No |
ClinGen gnomAD |
|
|
rs782724244 CA5427989 |
109 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427990 rs200031293 |
110 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1268555966 CA376210649 |
112 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574844694 CA376210672 |
115 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5427999 rs574844694 |
115 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA203674428 rs922393684 |
116 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA203674434 rs1049557316 |
119 | A>T | No |
ClinGen Ensembl |
|
|
CA203674436 rs888271639 |
120 | D>G | No |
ClinGen TOPMed |
|
|
CA376210706 rs888271639 |
120 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376210730 rs1392684878 |
124 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210740 rs1163762661 |
125 | M>K | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 135 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472686919 CA376210813 |
137 | S>P | No |
ClinGen TOPMed |
|
|
CA203674438 rs1005448592 |
139 | I>M | No |
ClinGen TOPMed |
|
|
CA203674442 rs1036897065 |
140 | M>V | No |
ClinGen Ensembl |
|
|
rs1589147358 CA376210843 |
141 | V>G | No |
ClinGen Ensembl |
|
|
rs1554835135 CA376210847 |
142 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210856 rs1196365120 |
143 | I>N | No |
ClinGen TOPMed |
|
|
CA376210858 rs1196365120 |
143 | I>T | No |
ClinGen TOPMed |
|
|
rs1589147368 CA376210866 |
144 | I>M | No |
ClinGen Ensembl |
|
|
rs1453672020 CA376210861 |
144 | I>V | No |
ClinGen TOPMed |
|
|
rs542560635 CA203674450 |
145 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 147 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463943317 CA376210973 |
155 | S>G | No |
ClinGen TOPMed |
|
|
rs1270037194 CA376210989 |
156 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203681695 rs1032799444 |
158 | S>N | No |
ClinGen TOPMed |
|
|
CA376211671 rs1191567688 |
160 | E>D | No |
ClinGen TOPMed |
|
|
CA376211659 rs1554836346 |
160 | E>K | No |
ClinGen gnomAD |
|
|
CA376211694 rs1478865353 |
162 | G>* | No |
ClinGen TOPMed |
|
|
rs1242908595 CA376211696 |
162 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376211726 rs1589155030 |
164 | I>M | No |
ClinGen Ensembl |
|
|
rs1589155026 CA376211721 |
164 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209749348 CA376211763 |
167 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1440919303 CA376211792 |
170 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 170 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376211810 rs1276155299 |
171 | H>Y | No |
ClinGen TOPMed |
|
|
CA376211824 rs1205360105 |
172 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957100983 CA203681703 |
176 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 177 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363531534 CA376211885 |
178 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270285765 CA376211917 |
182 | S>T | No |
ClinGen TOPMed |
|
|
rs1357100155 CA376211944 |
186 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376211961 rs1470534918 |
188 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376211971 rs1400167228 |
190 | Q>R | No |
ClinGen TOPMed |
|
|
CA376211985 rs988526312 |
192 | T>I | No |
ClinGen TOPMed |
|
|
CA203681706 rs988526312 |
192 | T>N | No |
ClinGen TOPMed |
|
|
CA376211989 rs1181354259 |
193 | N>H | No |
ClinGen TOPMed |
|
|
CA376212003 rs1589155087 |
195 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 195 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212013 rs1554836359 |
196 | Q>R | No |
ClinGen gnomAD |
|
|
CA376212019 rs1239486969 |
197 | V>L | No |
ClinGen TOPMed |
|
|
rs913066435 CA203681711 |
198 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376212041 rs1257332327 |
200 | P>L | No |
ClinGen TOPMed |
|
|
CA5428390 rs944509956 |
202 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212058 rs1273050353 |
203 | A>V | No |
ClinGen TOPMed |
|
|
rs976055290 CA203681719 |
204 | M>T | No |
ClinGen Ensembl |
|
|
CA376212068 rs1227265431 |
205 | T>A | No |
ClinGen TOPMed |
|
|
CA376212073 rs1589155117 |
206 | R>G | No |
ClinGen Ensembl |
|
|
rs1376489987 CA376212077 |
206 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 206 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316762859 CA376212092 |
208 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 209 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 211 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212115 rs1589155121 |
211 | V>G | No |
ClinGen Ensembl |
|
|
rs921825962 CA203681720 |
212 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 213 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212156 rs1329742543 |
217 | E>G | No |
ClinGen TOPMed |
|
|
CA376212152 rs1376700231 |
217 | E>K | No |
ClinGen TOPMed |
|
|
CA376212175 rs1444905672 |
220 | C>F | No |
ClinGen TOPMed |
|
|
rs1444905672 CA376212176 |
220 | C>S | No |
ClinGen TOPMed |
|
|
rs34460919 CA376212195 |
223 | G>* | No |
ClinGen TOPMed |
|
|
rs34460919 CA5428391 RCV001261568 |
223 | G>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1387311393 CA376212202 |
224 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 225 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164514831 CA376212213 |
226 | R>K | No |
ClinGen TOPMed |
|
|
CA203681725 rs887747640 |
229 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237271802 CA376212243 |
230 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1175297623 CA376212247 |
231 | R>G | No |
ClinGen TOPMed |
|
|
CA203681728 rs940782752 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1233434872 CA376212251 |
232 | D>N | No |
ClinGen TOPMed |
|
|
rs1036833113 CA203681731 |
234 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs896663809 CA203681739 |
234 | R>Q | No |
ClinGen TOPMed |
|
|
CA203681735 rs1036833113 |
234 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1393553584 CA376212337 |
244 | L>P | No |
ClinGen TOPMed |
|
|
rs1014155769 CA203681745 |
247 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554836379 CA376212365 |
248 | T>M | No |
ClinGen gnomAD |
|
|
CA203681756 rs905439451 |
249 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1434386577 CA376212371 |
249 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001234857 CA5428392 |
259 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA376212441 rs1419287474 |
260 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212474 rs1378724059 |
264 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376212491 rs1420696407 |
267 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212561 rs1032686581 |
276 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1032686581 CA203681766 |
276 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA376212563 rs1489842488 |
277 | L>V | No |
ClinGen TOPMed |
|
|
CA376212575 rs1270327044 |
279 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 279 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988595929 CA203681774 |
279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1258633361 CA376212583 |
280 | I>T | No |
ClinGen TOPMed |
|
|
CA376212597 rs1241624878 |
282 | F>L | No |
ClinGen TOPMed |
|
|
rs1317962290 CA376212604 |
283 | T>I | No |
ClinGen TOPMed |
|
|
rs1301036073 CA376212607 |
284 | P>S | No |
ClinGen TOPMed |
|
|
rs1301036073 CA376212605 |
284 | P>T | No |
ClinGen TOPMed |
|
|
CA376212613 rs1347970823 |
285 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 285 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376212622 rs1283951050 |
286 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399529926 CA376212632 |
287 | P>L | No |
ClinGen TOPMed |
|
|
rs1358823749 CA376212635 |
288 | L>F | No |
ClinGen TOPMed |
|
|
CA203681781 rs965930198 |
294 | V>I | No |
ClinGen TOPMed |
|
|
CA376212688 rs1479390642 |
297 | Q>* | No |
ClinGen TOPMed |
|
|
CA376212705 rs1199474315 |
298 | D>A | No |
ClinGen TOPMed |
|
|
rs976317974 CA203681784 |
298 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1259221288 CA376212751 |
301 | F>L | No |
ClinGen TOPMed |
|
|
rs1554836399 CA376212745 |
301 | F>Y | No |
ClinGen gnomAD |
|
|
CA376212755 rs1554836402 |
302 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 303 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 303 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953306960 CA203681786 |
307 | G>R | No |
ClinGen TOPMed |
|
|
rs953306960 CA376212816 |
307 | G>S | No |
ClinGen TOPMed |
|
|
CA376212840 rs1255732081 |
309 | I>V | No |
ClinGen TOPMed |
|
|
CA376212859 rs1202196005 |
310 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 311 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984635412 CA203681790 |
315 | I>V | No |
ClinGen Ensembl |
|
|
rs909236963 CA203681793 |
318 | V>I | No |
ClinGen TOPMed |
|
|
rs1338594101 CA376212988 |
321 | L>R | No |
ClinGen TOPMed |
|
|
CA376212996 rs1297832933 |
322 | C>Y | No |
ClinGen TOPMed |
|
|
CA203681795 rs940668335 |
324 | N>H | No |
ClinGen TOPMed |
|
|
CA203681803 rs917973333 |
327 | V>G | No |
ClinGen Ensembl |
|
|
rs1036475545 CA203681798 |
327 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1036475545 CA203681802 |
327 | V>M | No |
ClinGen TOPMed |
|
|
CA376213135 rs1468079927 |
333 | Y>D | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949616195 CA203681804 |
335 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 337 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376213250 rs1554836425 |
341 | R>S | No |
ClinGen gnomAD |
|
| rs1408210457 | 344 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 344 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465053648 CA376213381 |
350 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203681805 rs1045630834 |
351 | F>L | No |
ClinGen TOPMed |
No associated diseases with Q5W0B7
No regional properties for Q5W0B7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5W0B7 | |||
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 |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGRLIKFV | VFELLEFAAF | SIPTLVITEQ | FATAYQGTRA | RSDNTHYWLI | ISCSIAYVAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VTLLIWVPVK | VILHKKRYIY | RKIKGWRPVL | MMCVVLTTLP | CLTFSIAVTE | VQKSINGSAD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLPDMLPDLP | VSLVLLSLIM | VDIIEKLRIY | PLRGSQKSSE | NGHIHSTSLQ | HIKTVTEQVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSPENAASPQ | ATNSTQVSQP | SGAMTRSQES | VFMGPQEPSC | DSGILRMMSR | RDVRAELFLW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SFLLWSDTIE | MVRVAGHPNV | YKSSWLYPVY | IFSFISLLRI | TFTPQNPLLN | SLSVLLQDLP |
| 310 | 320 | 330 | 340 | 350 | |
| FVFVRLGLII | ALGTITPVLG | LCKNILVTLS | YIYFNYLTRI | RIFSAFEMSP | F |