Q86W33
PR
Gene name |
TPRA1 (GPR175, TMEM227, PP6566) |
Protein name |
Transmembrane protein adipocyte-associated 1 |
Names |
Integral membrane protein GPR175, Transmembrane protein 227 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:131601 |
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 Q86W33
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86W33-F1 | Predicted | AlphaFoldDB |
338 variants for Q86W33
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1232403121 CA354376516 |
3 | T>N | No |
ClinGen gnomAD |
|
|
rs780201668 CA2595395 |
4 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA83287362 rs933946576 |
5 | E>G | No |
ClinGen Ensembl |
|
|
rs1576377486 CA354376400 |
7 | V>G | No |
ClinGen Ensembl |
|
|
rs765667220 CA2595393 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2595390 rs771475085 |
9 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776849918 CA2595391 |
9 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376536573 CA2595389 |
11 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774166307 CA2595388 |
13 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768221005 CA2595387 |
14 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs758654417 CA354376297 |
15 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354376301 rs1347606042 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2595386 rs758654417 |
15 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354376283 rs1390585689 |
16 | L>P | No |
ClinGen gnomAD |
|
|
rs780932554 CA2595383 |
17 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs780932554 CA2595382 |
17 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs144861962 CA2595384 |
17 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354376175 rs1553736528 |
22 | P>S | No |
ClinGen Ensembl |
|
|
CA2595379 rs764314926 |
23 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2595378 rs148260197 |
25 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354376128 rs1465857112 |
25 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1465857112 CA354376131 |
25 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2595376 rs765418510 |
26 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752718568 CA2595377 |
26 | V>L | No |
ClinGen ExAC |
|
|
rs138907339 CA2595374 |
27 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354376080 rs1385425518 |
28 | H>L | No |
ClinGen TOPMed |
|
|
rs1316682355 CA354376085 |
28 | H>Y | No |
ClinGen gnomAD |
|
|
rs145318936 CA2595373 |
29 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291478154 CA354376069 |
29 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 30 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364888071 CA354376038 |
31 | L>Q | No |
ClinGen gnomAD |
|
|
rs1220529346 CA354376039 |
31 | L>V | No |
ClinGen gnomAD |
|
|
rs1026303836 CA83287275 |
35 | Y>C | No |
ClinGen Ensembl |
|
|
rs761131476 CA2595372 |
35 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1026303836 CA354375989 |
35 | Y>S | No |
ClinGen Ensembl |
|
|
rs779031851 COSM1616851 CA2595370 |
36 | E>K | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774840504 CA2595368 |
37 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774840504 CA2595369 |
37 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322450093 CA354375961 |
37 | D>N | No |
ClinGen TOPMed |
|
|
rs1452869235 CA354375952 |
38 | I>T | No |
ClinGen gnomAD |
|
|
rs1323336986 CA354375932 |
40 | T>I | No |
ClinGen TOPMed |
|
|
rs769384557 CA2595367 |
40 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177067208 CA354375908 |
42 | R>M | No |
ClinGen gnomAD |
|
|
rs200556283 CA2595346 |
43 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777525599 CA2595344 |
44 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2595345 rs143031341 |
44 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA83287055 rs948490377 |
46 | W>* | No |
ClinGen Ensembl |
|
|
CA2595343 rs771944762 |
46 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354575402 CA354375716 |
47 | D>Y | No |
ClinGen gnomAD |
|
|
CA354375692 rs1312500543 |
48 | L>F | No |
ClinGen gnomAD |
|
|
CA354375663 rs1559839763 |
49 | L>F | No |
ClinGen Ensembl |
|
|
CA2595340 rs754944322 |
49 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83287049 rs1049707944 |
50 | L>R | No |
ClinGen TOPMed |
|
|
CA2595338 rs201325091 |
52 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756667162 CA2595337 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354375590 rs1208398719 |
54 | N>D | No |
ClinGen TOPMed |
|
|
CA83287034 rs901246368 |
54 | N>S | No |
ClinGen TOPMed |
|
|
CA354375518 rs1576376228 |
56 | L>P | No |
ClinGen Ensembl |
|
|
rs1483610153 CA354375458 |
58 | L>F | No |
ClinGen TOPMed |
|
|
rs1473342902 CA354375368 |
64 | K>T | No |
ClinGen gnomAD |
|
|
COSM1037908 CA2595334 rs149024589 |
67 | S>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2595333 rs149024589 |
67 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs950417541 CA83287014 |
68 | A>T | No |
ClinGen Ensembl |
|
|
rs754759656 CA83287003 |
69 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754759656 CA354375279 |
69 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754759656 CA2595330 |
69 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595331 rs767562617 |
69 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA354375267 rs770480334 |
70 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770480334 CA2595329 |
70 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354375213 rs1354869228 |
73 | R>C | No |
ClinGen TOPMed |
|
|
rs376730796 CA2595327 |
73 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376730796 CA83286988 |
73 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305103085 CA354375201 |
74 | I>V | No |
ClinGen gnomAD |
|
|
CA2595326 rs771719148 |
75 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1295808005 CA354375161 |
76 | S>A | No |
ClinGen gnomAD |
|
|
rs1576376007 CA354375127 |
78 | P>S | No |
ClinGen Ensembl |
|
|
CA2595323 rs768982863 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2595324 rs35293898 |
79 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2595321 rs151005326 |
81 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2595319 rs746325881 |
84 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559836386 CA354374353 |
87 | V>L | No |
ClinGen Ensembl |
|
|
rs1020896805 CA83285537 |
90 | V>L | No |
ClinGen TOPMed |
|
|
CA2595302 rs769935140 |
91 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757769655 CA2595299 |
92 | L>P | No |
ClinGen ExAC |
|
|
rs1394870531 CA354374246 |
95 | I>M | No |
ClinGen TOPMed |
|
|
rs1437827504 CA354374243 |
96 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758797815 CA2595295 |
96 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2595294 rs145572251 |
97 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354374233 rs145572251 |
97 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354374234 rs1318022042 |
97 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs183306328 CA2595293 |
99 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390182046 CA354374175 |
101 | S>Y | No |
ClinGen gnomAD |
|
|
CA354374147 rs1480862195 |
102 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2595291 rs537992461 |
102 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377011200 COSM3059172 CA2595290 |
103 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA354374136 rs1232506134 |
103 | T>S | No |
ClinGen gnomAD |
|
|
rs147285727 CA83285476 |
104 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147285727 CA2595288 |
104 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443911621 CA354374091 |
105 | S>I | No |
ClinGen gnomAD |
|
|
rs1259949415 CA354374080 |
106 | T>A | No |
ClinGen gnomAD |
|
|
CA83285471 rs377688619 |
107 | S>L | No |
ClinGen ESP |
|
| TCGA novel | 108 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2595284 rs770138236 |
109 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1474148546 CA354374002 |
110 | A>V | No |
ClinGen TOPMed |
|
|
rs1576370867 CA354373999 |
111 | T>A | No |
ClinGen Ensembl |
|
|
CA2595282 rs776750338 |
112 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA83285458 rs1051660793 |
112 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354373961 rs1559835920 |
113 | A>V | No |
ClinGen Ensembl |
|
|
CA2595261 rs760687926 |
116 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83285348 rs773646694 |
120 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576370447 CA354373715 |
121 | T>P | No |
ClinGen Ensembl |
|
|
rs201752246 CA2595258 |
122 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1192330541 CA354373687 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779215230 CA2595256 |
123 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs768929534 CA2595255 |
124 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2595253 rs745473628 |
127 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA354373589 rs756719547 |
128 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs756719547 CA2595251 |
128 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777484058 CA2595249 |
129 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595248 rs758388311 |
131 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752723898 CA2595247 |
131 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA83285269 rs1035692777 |
131 | S>R | No |
ClinGen TOPMed |
|
|
rs1398436081 CA354373477 |
134 | I>N | No |
ClinGen TOPMed |
|
|
CA354373462 rs1297620359 |
135 | L>P | No |
ClinGen TOPMed |
|
|
CA354373302 rs1344880367 |
141 | H>Y | No |
ClinGen gnomAD |
|
|
CA354373286 rs1313698964 |
142 | L>M | No |
ClinGen gnomAD |
|
|
CA354373215 rs1393279388 |
144 | S>N | No |
ClinGen gnomAD |
|
|
rs1422229756 CA354373168 |
146 | S>F | No |
ClinGen gnomAD |
|
|
rs748052902 CA2595230 |
146 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83285161 rs760248891 |
148 | I>M | No |
ClinGen gnomAD |
|
|
rs1485736616 CA354373118 |
149 | K>R | No |
ClinGen gnomAD |
|
|
CA354373101 rs1212491539 |
150 | R>Q | No |
ClinGen gnomAD |
|
|
CA2595229 rs181701225 |
150 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484411814 CA354373091 |
151 | V>M | No |
ClinGen gnomAD |
|
|
rs1392530976 CA354373030 |
153 | A>G | No |
ClinGen TOPMed |
|
|
CA354372970 rs1293325970 |
156 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1280621689 CA354372964 |
157 | V>L | No |
ClinGen TOPMed |
|
|
rs1240397979 CA354372929 |
159 | S>F | No |
ClinGen gnomAD |
|
|
CA83285108 rs753132142 |
159 | S>P | No |
ClinGen gnomAD |
|
|
rs1349337531 CA354372896 |
161 | A>D | No |
ClinGen TOPMed |
|
|
CA354372884 rs1294145177 |
162 | Y>H | No |
ClinGen gnomAD |
|
|
CA354372826 rs1416797937 |
164 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767919594 CA83285104 |
165 | T>S | No |
ClinGen gnomAD |
|
|
rs745860135 CA2595204 CA354371984 |
167 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254786366 CA354371965 |
168 | T>I | No |
ClinGen gnomAD |
|
|
CA354371942 rs1272785703 |
170 | E>D | No |
ClinGen gnomAD |
|
|
CA2595202 rs755922783 |
170 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354371911 rs1576368248 |
173 | Y>S | No |
ClinGen Ensembl |
|
|
rs778552939 CA83284822 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778552939 CA354371895 |
174 | P>R | No |
ClinGen gnomAD |
|
|
CA2595200 rs767729369 |
174 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2595199 rs374409658 |
175 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354371837 rs1372425314 |
179 | S>A | No |
ClinGen gnomAD |
|
|
rs150898966 CA2595198 |
180 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354371766 rs1439250664 |
184 | N>S | No |
ClinGen gnomAD |
|
|
rs1156631806 CA354371756 |
185 | I>V | No |
ClinGen gnomAD |
|
|
rs1576368093 CA354371729 |
186 | Y>* | No |
ClinGen Ensembl |
|
|
rs1158803594 CA354371734 |
186 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA83284791 rs930813471 |
186 | Y>N | No |
ClinGen Ensembl |
|
|
CA354371702 rs1576368073 |
188 | H>Q | No |
ClinGen Ensembl |
|
|
CA2595196 rs764283568 |
188 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370399947 CA2595195 |
191 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2595194 rs377393713 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 194 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2595193 rs765649738 |
194 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219097352 CA354371611 |
195 | L>P | No |
ClinGen TOPMed |
|
|
rs141588280 CA2595191 |
196 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141588280 CA354371605 |
196 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262104305 CA354371599 |
197 | S>C | No |
ClinGen gnomAD |
|
|
CA354371587 rs1197170686 |
198 | S>P | No |
ClinGen TOPMed |
|
|
CA354371558 rs1442792558 |
199 | C>Y | No |
ClinGen gnomAD |
|
|
rs148342343 COSM3702301 CA2595187 |
200 | F>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs773699156 CA2595188 |
200 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA354371514 rs1200643461 |
202 | F>I | No |
ClinGen TOPMed |
|
|
CA83284701 rs906971600 |
203 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354371432 rs1274324040 |
204 | V>D | No |
ClinGen gnomAD |
|
|
rs1198011093 CA354371422 |
205 | Y>C | No |
ClinGen gnomAD |
|
|
rs886734889 CA83284601 |
206 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2595158 rs758345624 |
215 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234246934 CA354371292 |
215 | P>S | No |
ClinGen gnomAD |
|
|
CA2595157 rs752821026 |
216 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779195818 CA2595156 |
219 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2595155 rs755524151 COSM1495389 |
219 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779195818 CA354371233 |
219 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388876191 CA354371207 |
220 | I>M | No |
ClinGen TOPMed |
|
|
CA83284562 rs1039641000 |
221 | S>Y | No |
ClinGen Ensembl |
|
|
CA354371102 rs1202304767 |
225 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1220414981 CA354371107 |
225 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2595135 rs749751543 |
228 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1352331878 CA354371045 |
229 | Y>C | No |
ClinGen gnomAD |
|
|
CA83284353 rs899440348 |
230 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1236339219 CA354371035 |
230 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354371033 rs1236339219 |
230 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2595133 rs756645190 |
232 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595132 rs750784934 |
234 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1039264549 CA83284352 |
234 | I>V | No |
ClinGen gnomAD |
|
|
CA83284344 rs767820847 |
235 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758037516 CA2595130 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759061566 CA2595127 |
241 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2595125 rs766338560 |
242 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA354370884 rs1576366474 |
242 | Q>R | No |
ClinGen Ensembl |
|
|
CA2595122 rs771807189 |
244 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354370860 rs1425889235 |
244 | L>V | No |
ClinGen TOPMed |
|
|
CA354370768 rs1300486066 |
251 | F>L | No |
ClinGen gnomAD |
|
|
CA2595121 rs748327009 |
252 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs768786706 CA354370715 |
254 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398330891 CA354370719 |
254 | I>T | No |
ClinGen gnomAD |
|
|
rs1313605692 CA354370712 |
255 | E>K | No |
ClinGen gnomAD |
|
|
rs1466649465 CA354370682 |
257 | L>V | No |
ClinGen TOPMed |
|
|
rs755588666 CA2595087 |
261 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354370549 rs1177925524 |
262 | A>V | No |
ClinGen gnomAD |
|
|
CA354370528 rs1254620405 |
263 | T>I | No |
ClinGen gnomAD |
|
|
rs750304115 CA2595085 |
264 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2595084 rs767348937 |
264 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354370494 rs1216598329 |
265 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1422561324 CA354370445 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA83284036 rs13087729 |
269 | S>R | No |
ClinGen TOPMed |
|
|
CA2595081 rs751375155 |
269 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1421686610 CA354370385 |
272 | A>S | No |
ClinGen TOPMed |
|
|
rs763226964 CA2595078 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354370364 rs763226964 |
273 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354370367 rs1162544678 |
273 | P>S | No |
ClinGen TOPMed |
|
|
CA2595076 rs769855572 |
274 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1396762388 CA354370329 |
275 | I>S | No |
ClinGen gnomAD |
|
|
CA354370317 rs1196502291 |
276 | Y>C | No |
ClinGen gnomAD |
|
|
CA354370319 rs1196502291 |
276 | Y>S | No |
ClinGen gnomAD |
|
|
rs557736127 CA2595074 |
277 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA83283978 rs370910405 |
279 | F>S | No |
ClinGen ESP TOPMed |
|
|
rs370910405 CA83283983 |
279 | F>Y | No |
ClinGen ESP TOPMed |
|
|
rs1359791032 CA354370256 |
280 | L>P | No |
ClinGen TOPMed |
|
|
CA354370243 rs1489340596 |
281 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354370241 rs1489340596 |
281 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs143003698 CA2595073 |
281 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215935043 CA354370229 |
282 | G>D | No |
ClinGen gnomAD |
|
|
rs1576365314 CA354370206 |
283 | F>C | No |
ClinGen Ensembl |
|
|
rs778084172 CA2595071 |
283 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA354370184 rs1376788635 |
284 | F>L | No |
ClinGen TOPMed |
|
|
rs866491275 CA83283957 |
285 | G>C | No |
ClinGen TOPMed |
|
|
rs1258224709 CA354370173 |
285 | G>D | No |
ClinGen gnomAD |
|
|
CA354370175 rs866491275 |
285 | G>S | No |
ClinGen TOPMed |
|
|
rs1397075671 CA354369688 |
286 | S>L | No |
ClinGen gnomAD |
|
|
rs1463812514 CA354369665 |
288 | P>S | No |
ClinGen gnomAD |
|
|
rs774848390 CA2595048 |
289 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2595047 rs769303150 |
289 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354369604 rs1186094801 |
292 | F>L | No |
ClinGen gnomAD |
|
|
CA354369573 rs1251804222 |
295 | K>Q | No |
ClinGen gnomAD |
|
|
CA83282528 rs377696734 |
295 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2595044 rs780802271 |
297 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143536771 CA354369508 |
299 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354369513 rs1281955422 |
299 | D>G | No |
ClinGen gnomAD |
|
|
rs1576361569 CA354369496 |
300 | E>D | No |
ClinGen Ensembl |
|
|
rs372625321 CA2595041 |
300 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354369507 rs372625321 |
300 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758418111 CA354369430 |
305 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354369436 rs1347113665 |
305 | D>G | No |
ClinGen TOPMed |
|
|
rs1333206808 CA354369440 |
305 | D>N | No |
ClinGen gnomAD |
|
|
rs752428289 CA2595039 |
306 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765118359 CA354369408 |
307 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs765118359 CA2595038 |
307 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2595035 rs766402480 |
309 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595034 rs766402480 |
309 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576361420 CA354369361 |
310 | Q>H | No |
ClinGen Ensembl |
|
|
rs1576361404 CA354369356 |
311 | P>A | No |
ClinGen Ensembl |
|
|
CA354369351 rs1576361394 |
311 | P>R | No |
ClinGen Ensembl |
|
|
rs891603547 CA354369327 |
313 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs891603547 CA83282392 |
313 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2595028 rs768010272 |
315 | A>P | No |
ClinGen ExAC |
|
|
rs1452996894 CA354369282 |
316 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2595027 rs762425730 |
316 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595026 rs137926537 |
317 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201858975 CA83282382 |
317 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2595025 rs769088459 |
319 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA354369171 rs1303912324 |
323 | A>T | No |
ClinGen gnomAD |
|
|
rs777490378 CA2595020 |
325 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA354369102 rs1391052111 |
327 | G>E | No |
ClinGen gnomAD |
|
|
CA354369078 rs1394363264 |
328 | A>S | No |
ClinGen gnomAD |
|
|
rs1321828766 CA354369068 |
329 | S>P | No |
ClinGen gnomAD |
|
|
rs1361223438 CA354369039 |
330 | A>V | No |
ClinGen gnomAD |
|
|
rs140399370 CA2595019 |
331 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438419534 CA354368984 |
333 | Y>C | No |
ClinGen gnomAD |
|
|
rs1044485311 CA354368965 |
334 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA83282316 rs1044485311 |
334 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1403087243 CA354368935 |
336 | T>A | No |
ClinGen TOPMed |
|
|
rs778520404 CA2595017 |
336 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354368899 rs1362418198 |
337 | Q>H | No |
ClinGen TOPMed |
|
|
rs147812364 CA2595016 |
338 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2595014 rs780245869 |
339 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997046848 CA83282289 |
340 | S>P | No |
ClinGen TOPMed |
|
|
rs1559828552 CA354368823 |
341 | A>T | No |
ClinGen Ensembl |
|
|
rs541748864 CA2595012 |
342 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354368778 rs1220908185 |
343 | G>A | No |
ClinGen TOPMed |
|
|
rs369669960 CA2595009 |
343 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369669960 CA2595010 |
343 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2595008 rs764300125 |
344 | V>G | No |
ClinGen ExAC |
|
|
rs1559828451 CA354368746 |
345 | A>T | No |
ClinGen Ensembl |
|
|
CA354368688 rs1436900151 |
348 | D>Y | No |
ClinGen gnomAD |
|
|
rs770702483 CA83282225 |
349 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2595005 rs770702483 |
349 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2595006 rs776055660 |
349 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2595004 rs760442301 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771631999 CA2595002 |
351 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1417877428 CA354368647 |
352 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1417877428 CA354368648 |
352 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs931110017 CA83282218 |
353 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1163649259 CA354368639 |
353 | M>R | No |
ClinGen TOPMed |
|
|
rs559123419 CA2595001 |
353 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201165800 CA2595000 |
354 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354368622 rs1171675644 |
356 | H>Y | No |
ClinGen gnomAD |
|
|
rs749081238 CA2594998 |
357 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1190891295 CA354368612 |
357 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1286955811 CA354368606 |
358 | G>A | No |
ClinGen TOPMed |
|
|
CA354368605 rs1286955811 |
358 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354368604 rs1286955811 |
358 | G>V | No |
ClinGen TOPMed |
|
|
rs779867284 CA2594997 |
361 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354368580 rs1258212023 |
362 | S>R | No |
ClinGen gnomAD |
|
|
rs1212127474 CA354368567 |
363 | T>I | No |
ClinGen gnomAD |
|
|
CA2594996 rs756309155 |
365 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2594995 rs764072994 |
365 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2594994 rs372160309 |
365 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2594993 rs375142640 |
366 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2594992 rs751953752 |
367 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2594991 rs576865290 |
367 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354368546 rs751953752 |
367 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753079497 CA2594989 |
368 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs763620226 CA2594990 |
368 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs765743858 CA2594988 |
370 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs140081378 CA2594985 |
371 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760352251 CA2594987 |
371 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA354368517 rs1466411161 |
372 | N>D | No |
ClinGen gnomAD |
|
|
CA354368512 rs1168081985 |
372 | N>K | No |
ClinGen gnomAD |
|
|
rs956271064 CA83282174 |
372 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2594984 rs374195678 |
373 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868044817 CA83282172 |
373 | A>V | No |
ClinGen TOPMed |
No associated diseases with Q86W33
No regional properties for Q86W33
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86W33 | |||
2 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. |
| 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 |
|---|---|
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| embryonic cleavage | The first few specialized divisions of an activated animal egg. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of mitotic cell cycle phase transition | Any process that stops, prevents or reduces the frequency, rate or extent of mitotic cell cycle phase transition. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDTLEEVTWA | NGSTALPPPL | APNISVPHRC | LLLLYEDIGT | SRVRYWDLLL | LIPNVLFLIF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLWKLPSARA | KIRITSSPIF | ITFYILVFVV | ALVGIARAVV | SMTVSTSNAA | TVADKILWEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRFFLLAIEL | SVIILGLAFG | HLESKSSIKR | VLAITTVLSL | AYSVTQGTLE | ILYPDAHLSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDFNIYGHGG | RQFWLVSSCF | FFLVYSLVVI | LPKTPLKERI | SLPSRRSFYV | YAGILALLNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQGLGSVLLC | FDIIEGLCCV | DATTFLYFSF | FAPLIYVAFL | RGFFGSEPKI | LFSYKCQVDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEEPDVHLPQ | PYAVARREGL | EAAGAAGASA | ASYSSTQFDS | AGGVAYLDDI | ASMPCHTGSI |
| 370 | |||||
| NSTDSERWKA | INA |