Q15035
Gene name |
TRAM2 (KIAA0057) |
Protein name |
Translocating chain-associated membrane protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9697 |
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 Q15035
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15035-F1 | Predicted | AlphaFoldDB |
255 variants for Q15035
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA139015206 rs917481116 |
3 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA364457256 rs1166280675 |
4 | R>C | No |
ClinGen TOPMed |
|
|
CA139015190 rs893631122 |
6 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1055026180 CA139015180 |
7 | T>M | No |
ClinGen Ensembl |
|
|
rs1014827136 CA139015166 |
10 | Y>S | No |
ClinGen Ensembl |
|
|
CA3856787 rs774335373 |
11 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs940205416 CA139015165 |
11 | P>R | No |
ClinGen TOPMed |
|
|
rs910017104 CA139015160 |
12 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs558653246 CA3856785 |
15 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA139015151 rs927602746 |
16 | E>K | No |
ClinGen Ensembl |
|
|
CA139015150 rs984557992 |
17 | F>L | No |
ClinGen TOPMed |
|
|
CA3856784 rs538768694 |
19 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA139015145 rs951849587 |
19 | I>T | No |
ClinGen TOPMed |
|
|
rs867466047 CA139015122 |
21 | N>D | No |
ClinGen Ensembl |
|
|
CA364457059 rs1240870080 |
22 | H>Q | No |
ClinGen gnomAD |
|
|
rs1471352083 CA364457054 |
23 | A>P | No |
ClinGen gnomAD |
|
|
rs747547607 CA3856782 |
23 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780770976 CA3856781 |
24 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3856780 rs754507968 |
25 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929039181 CA139015109 |
25 | I>M | No |
ClinGen Ensembl |
|
|
rs1271467688 CA364457010 |
27 | F>L | No |
ClinGen TOPMed |
|
|
rs746383393 CA3856779 |
28 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1234316964 CA364457004 |
28 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA139015106 rs200909798 |
28 | C>W | No |
ClinGen Ensembl |
|
|
rs1456940013 CA364456986 |
30 | V>L | No |
ClinGen gnomAD |
|
|
CA364456977 rs1379030210 |
31 | L>F | No |
ClinGen gnomAD |
|
|
CA3856776 rs370828858 |
34 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764342345 CA364456942 |
35 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756371697 CA3856774 |
35 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764342345 CA3856775 |
35 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965982443 CA139015086 |
36 | G>R | No |
ClinGen TOPMed |
|
|
CA3856772 rs767626471 |
38 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA364456919 rs767626471 |
38 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA3856771 rs759570092 |
39 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA364456895 rs1352843512 |
40 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3856752 rs766240970 |
49 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397053532 CA364453996 |
49 | F>L | No |
ClinGen gnomAD |
|
|
rs931001562 CA138989973 |
51 | L>S | No |
ClinGen Ensembl |
|
|
rs1010491529 CA138989970 |
54 | Y>C | No |
ClinGen TOPMed |
|
|
CA138989967 rs754061972 |
55 | N>D | No |
ClinGen Ensembl |
|
|
rs975184079 CA138989964 |
56 | I>N | No |
ClinGen gnomAD |
|
|
rs975184079 CA138989961 |
56 | I>T | No |
ClinGen gnomAD |
|
|
CA3856751 rs762893969 |
56 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202012771 CA138989958 |
57 | S>N | No |
ClinGen Ensembl |
|
|
CA138989955 rs537957321 |
58 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856750 rs537957321 |
58 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912079339 CA138989944 |
59 | P>R | No |
ClinGen gnomAD |
|
|
rs765079698 CA3856749 |
59 | P>S | No |
ClinGen ExAC |
|
|
CA138989941 rs936039667 |
60 | T>K | No |
ClinGen TOPMed |
|
|
CA364452455 rs1330162868 |
64 | E>* | No |
ClinGen gnomAD |
|
|
rs769069443 CA3856718 |
66 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950895673 CA364452435 |
67 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1361062693 CA364452431 |
67 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA138982027 rs950895673 |
67 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3856716 rs780299078 |
70 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427276969 CA364452384 |
72 | P>S | No |
ClinGen gnomAD |
|
|
CA364452381 rs1427276969 |
72 | P>T | No |
ClinGen gnomAD |
|
|
CA364452365 rs1173244715 |
73 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1187064516 CA364452346 |
75 | L>M | No |
ClinGen gnomAD |
|
|
CA3856715 rs758451152 |
78 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745957040 CA3856714 |
82 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856713 rs183224983 |
84 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3856712 rs142881233 |
85 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753870579 CA3856711 |
87 | I>L | No |
ClinGen ExAC |
|
|
rs148442567 CA138981993 |
88 | L>F | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 90 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314466949 CA364452179 |
91 | V>G | No |
ClinGen gnomAD |
|
|
rs756014107 CA3856709 |
92 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs752372265 CA3856708 |
93 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3856687 rs200215792 |
100 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3856686 rs762568731 |
102 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764607461 CA3856684 |
103 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3856685 rs754282909 |
103 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364451885 rs1298062508 |
107 | S>F | No |
ClinGen gnomAD |
|
|
CA138981773 rs1044975984 |
112 | S>G | No |
ClinGen TOPMed |
|
|
CA3856683 rs371068659 |
115 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3856682 rs371068659 |
115 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415140260 CA364451821 |
116 | E>A | No |
ClinGen gnomAD |
|
|
rs772225939 CA3856681 |
116 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364451802 rs1472098189 |
119 | Q>* | No |
ClinGen gnomAD |
|
|
CA3856676 rs144551889 |
122 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769855429 CA3856675 |
124 | H>P | No |
ClinGen ExAC |
|
|
CA364451751 rs1277278604 |
126 | T>I | No |
ClinGen TOPMed |
|
|
rs1338179962 CA364451745 |
127 | S>L | No |
ClinGen TOPMed |
|
|
rs985212766 CA138981729 |
130 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754872581 CA3856672 |
133 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856670 rs377433311 |
134 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3856669 rs775044926 |
135 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749967299 CA3856668 |
136 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364451690 rs1223918888 |
136 | V>M | No |
ClinGen TOPMed |
|
|
CA364451682 rs201183470 |
137 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3856667 rs201183470 |
137 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364461136 rs1581869311 |
143 | N>T | No |
ClinGen Ensembl |
|
|
CA139015691 rs868432779 |
144 | P>L | No |
ClinGen Ensembl |
|
|
rs773637375 CA3856640 |
144 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765378412 CA3856639 |
145 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856638 rs762034798 |
146 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3856637 rs568794165 CA364461102 |
146 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1292347028 CA364461056 |
150 | D>H | No |
ClinGen TOPMed |
|
|
rs768675125 CA3856636 |
151 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1581869276 CA364461018 |
153 | H>Y | No |
ClinGen Ensembl |
|
|
rs775372010 CA3856634 |
155 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3856632 rs745487573 |
157 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs745487573 CA3856633 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3856609 rs777322963 |
159 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA364460857 rs1356926341 |
166 | C>* | No |
ClinGen TOPMed |
|
|
rs373265077 CA139014928 |
170 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs373265077 CA364460818 |
170 | Y>S | No |
ClinGen ESP TOPMed |
|
|
rs1467856073 CA364460795 |
172 | L>M | No |
ClinGen gnomAD |
|
|
CA364460779 rs1380533431 |
173 | H>L | No |
ClinGen TOPMed |
|
|
rs780476024 CA3856606 |
174 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189616958 CA364460665 |
183 | V>I | No |
ClinGen gnomAD |
|
|
CA3856604 rs750849216 |
184 | R>Q | Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364460445 rs1355312163 |
186 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs754061993 CA3856584 |
187 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364460427 rs1440944636 |
188 | I>T | No |
ClinGen gnomAD |
|
|
CA3856582 COSM1080263 rs189107930 |
190 | R>H | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs189107930 CA3856583 |
190 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364460393 rs1438297950 |
193 | Q>H | No |
ClinGen TOPMed |
|
|
rs1276275635 CA364460372 |
196 | C>Y | No |
ClinGen Ensembl |
|
|
rs767380220 CA3856580 |
198 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3856577 rs766129844 |
200 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251522557 CA364460337 |
202 | I>V | No |
ClinGen gnomAD |
|
|
rs1322421654 CA364460257 |
212 | R>C | No |
ClinGen gnomAD |
|
|
rs61734483 CA3856554 |
212 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 214 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774955626 CA3856550 |
216 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA139012979 rs912416825 |
216 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3856549 rs143406018 |
218 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA139012964 rs893253877 |
220 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1243324020 CA364460214 |
220 | L>P | No |
ClinGen TOPMed |
|
|
CA364460205 rs1419410585 |
221 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770260250 CA3856546 |
222 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs748336277 CA3856545 |
223 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856544 rs781441095 |
224 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856543 rs755003212 |
229 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs747125419 CA3856542 |
230 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758282274 CA3856540 |
231 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 232 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562474489 CA364460118 |
235 | Y>H | No |
ClinGen Ensembl |
|
|
CA364460099 rs1315770162 |
237 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380831193 CA364460070 |
241 | N>S | No |
ClinGen gnomAD |
|
|
CA3856536 rs757118859 |
242 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs370377745 CA3856534 |
243 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1392040143 CA364460054 |
243 | K>R | No |
ClinGen TOPMed |
|
|
rs1300458260 CA364460048 |
244 | L>P | No |
ClinGen TOPMed |
|
|
CA3856516 rs534669213 |
246 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3856515 rs755811306 |
247 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3856514 rs752460433 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA364460000 rs1221568437 |
250 | A>T | No |
ClinGen gnomAD |
|
|
CA364459990 rs1489844209 |
251 | V>A | No |
ClinGen gnomAD |
|
|
rs766905278 CA3856513 |
253 | G>V | No |
ClinGen ExAC |
|
|
CA364459975 rs1288199379 |
254 | V>I | No |
ClinGen gnomAD |
|
|
rs1000386345 CA139012487 |
255 | T>P | No |
ClinGen gnomAD |
|
|
CA364459930 rs1239903526 |
261 | T>A | No |
ClinGen gnomAD |
|
|
CA364459931 rs1239903526 |
261 | T>P | No |
ClinGen gnomAD |
|
|
rs1316531007 CA364459923 |
262 | L>F | No |
ClinGen gnomAD |
|
|
rs1045731447 CA139012477 |
263 | A>V | No |
ClinGen TOPMed |
|
|
CA139012474 rs377045665 |
264 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3856511 rs377045665 COSM1080262 |
264 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364459905 rs1351084702 |
266 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364459898 rs1346467917 |
267 | I>V | No |
ClinGen gnomAD |
|
|
rs772435370 CA3856510 |
273 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM742536 CA3856509 rs776994347 |
273 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776994347 CA364459859 |
273 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776994347 CA3856508 |
273 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856504 rs772025878 |
274 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs200739725 CA3856506 CA3856505 |
274 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772025878 CA364459858 |
274 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3856507 rs200739725 |
274 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856503 rs745986308 |
275 | E>G | No |
ClinGen ExAC |
|
|
rs778645164 CA3856502 |
276 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771002999 CA3856501 |
278 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1429665105 CA364459809 |
281 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373852555 CA3856499 |
282 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756012347 CA3856498 |
284 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3856497 COSM1080260 rs752268807 |
287 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA364459760 rs1462797146 |
288 | T>A | No |
ClinGen TOPMed |
|
|
CA364459729 rs1485621272 |
292 | R>K | No |
ClinGen gnomAD |
|
|
rs369134558 CA364459698 |
295 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369134558 CA3856480 |
295 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364459693 rs1292776142 |
296 | L>V | No |
ClinGen gnomAD |
|
|
CA3856477 rs780643582 |
302 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754674541 CA3856476 |
305 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs137922566 CA364459632 |
306 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3856475 rs137922566 |
306 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757947724 CA3856473 |
309 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754324999 CA3856472 |
309 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364459569 rs1251629972 |
314 | Q>H | No |
ClinGen gnomAD |
|
|
CA3856469 rs753115513 |
316 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3856470 rs548071187 |
316 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247520552 CA364459540 |
319 | R>Q | No |
ClinGen gnomAD |
|
|
CA364459542 rs1398927396 |
319 | R>W | No |
ClinGen TOPMed |
|
|
rs74773325 CA3856468 |
320 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3856467 rs759795709 |
321 | Y>N | No |
ClinGen ExAC |
|
|
rs886356394 CA139011492 |
322 | W>C | No |
ClinGen Ensembl |
|
|
rs774474008 CA3856466 |
323 | N>D | Variant assessed as Somatic; 4.752e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364459509 rs1329260514 |
324 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA139011469 rs1047643328 |
325 | Q>R | No |
ClinGen Ensembl |
|
|
rs763148177 CA3856464 |
328 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1455685003 CA364459477 |
328 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773242168 CA3856463 |
329 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364459472 rs1304952977 |
329 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA364459465 rs1373221419 |
330 | R>K | No |
ClinGen TOPMed |
|
|
CA364459467 rs1373221419 |
330 | R>T | No |
ClinGen TOPMed |
|
|
CA3856460 rs200755793 |
331 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200755793 CA364459458 |
331 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA364459461 rs1161776027 |
331 | V>L | No |
ClinGen gnomAD |
|
|
CA364459455 rs1364642890 |
332 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364459451 rs1290597997 |
333 | A>T | No |
ClinGen TOPMed |
|
|
rs1181513124 CA3856459 |
334 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs199535862 CA3856457 |
334 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364459445 rs1181513124 |
334 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364459439 rs1271495744 |
335 | P>S | No |
ClinGen gnomAD |
|
|
rs757859864 CA3856455 |
338 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs972572216 CA139011383 |
338 | P>T | No |
ClinGen TOPMed |
|
|
rs1226155634 CA364459418 |
339 | A>P | No |
ClinGen gnomAD |
|
|
rs1226155634 CA364459419 |
339 | A>T | No |
ClinGen gnomAD |
|
|
rs778188890 CA3856453 |
340 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364459410 rs778188890 |
340 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364459405 rs1184328930 |
341 | L>F | No |
ClinGen TOPMed |
|
|
rs1238056237 CA364459403 |
341 | L>P | No |
ClinGen gnomAD |
|
|
CA364459397 rs1412359278 |
342 | I>T | No |
ClinGen TOPMed |
|
|
rs1284950460 CA364459376 |
345 | E>A | No |
ClinGen gnomAD |
|
|
rs1479989918 CA364459379 |
345 | E>K | No |
ClinGen TOPMed |
|
|
CA3856449 rs755344750 |
346 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414732764 CA364459366 |
347 | G>S | No |
ClinGen TOPMed |
|
|
rs781570575 CA3856430 |
348 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140201298 CA139009936 |
352 | G>E | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 357 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3856429 rs755327656 |
358 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs748744364 CA139009930 |
359 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA139009925 rs748744364 |
359 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780364997 CA3856427 |
359 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758681632 CA3856426 |
360 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250137853 CA364459260 |
361 | S>Y | No |
ClinGen TOPMed |
|
|
COSM1080255 rs1160106138 CA364459249 |
363 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA364459250 rs750740962 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1337717228 CA364459245 |
364 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765330900 CA3856424 |
364 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3856422 rs575072618 |
367 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364459219 rs1409199594 |
368 | K>Q | No |
ClinGen TOPMed |
|
|
rs775281396 CA3856419 |
369 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs986726316 CA139009880 |
370 | P>L | No |
ClinGen TOPMed |
No associated diseases with Q15035
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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 |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| collagen biosynthetic process | The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| protein insertion into ER membrane | The process that results in incorporation of a protein into an endoplasmic reticulum (ER) membrane. It depends on specific topogenic sequences of amino acids that ensure that a protein acquires the proper orientation during its insertion into the ER membrane. |
| SRP-dependent cotranslational protein targeting to membrane, translocation | The process during cotranslational membrane targeting wherein proteins move across a membrane. SRP and its receptor initiate the transfer of the nascent chain across the endoplasmic reticulum (ER) membrane; they then dissociate from the chain, which is transferred to a set of transmembrane proteins, collectively called the translocon. Once the nascent chain translocon complex is assembled, the elongating chain passes directly from the large ribosomal subunit into the centers of the translocon, a protein-lined channel within the membrane. The growing chain is never exposed to the cytosol and does not fold until it reaches the ER lumen. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q924Z5 | Tram2 | Translocating chain-associated membrane protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFRRRTKSY | PLFSQEFVIH | NHADIGFCLV | LCVLIGLMFE | VTAKTAFLFI | LPQYNISVPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADSETVHYHY | GPKDLVTILF | YIFITIILHA | VVQEYILDKI | SKRLHLSKVK | HSKFNESGQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VVFHFTSVIW | CFYVVVTEGY | LTNPRSLWED | YPHVHLPFQV | KFFYLCQLAY | WLHALPELYF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKVRKEEIPR | QLQYICLYLV | HIAGAYLLNL | SRLGLILLLL | QYSTEFLFHT | ARLFYFADEN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NEKLFSAWAA | VFGVTRLFIL | TLAVLAIGFG | LARMENQAFD | PEKGNFNTLF | CRLCVLLLVC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AAQAWLMWRF | IHSQLRHWRE | YWNEQSAKRR | VPATPRLPAR | LIKRESGYHE | NGVVKAENGT |
| SPRTKKLKSP |