Q6UXY1
PR
Gene name |
BAIAP2L2 (UNQ9336/PRO34007) |
Protein name |
Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 |
Names |
BAI1-associated protein 2-like protein 2, Planar intestinal- and kidney-specific BAR domain protein, Pinkbar |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80115 |
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 Q6UXY1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6UXY1-F1 | Predicted | AlphaFoldDB |
557 variants for Q6UXY1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10230498 rs770821300 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551506196 CA10230496 COSM1616447 |
4 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA411522445 rs551506196 |
4 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10230495 rs769409403 |
5 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs769409403 CA411522419 |
5 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1414921372 CA411522393 |
6 | D>E | No |
ClinGen gnomAD |
|
|
CA324176343 rs879180426 |
8 | F>I | No |
ClinGen Ensembl |
|
|
CA411522361 CA411522358 rs4820313 |
8 | F>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10230493 rs780619774 |
9 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA324176339 rs997281473 |
9 | Y>H | No |
ClinGen gnomAD |
|
|
rs965328795 CA324176328 |
11 | S>P | No |
ClinGen Ensembl |
|
|
CA411522290 CA411522288 rs1244490445 |
13 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA411522296 rs1207722129 |
13 | M>T | No |
ClinGen TOPMed |
|
|
CA10230492 rs370998224 |
13 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10230491 rs746333079 |
14 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757594240 CA10230490 |
15 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1271964074 CA411522274 |
15 | I>V | No |
ClinGen gnomAD |
|
|
CA324176312 rs1004221703 |
16 | Y>C | No |
ClinGen Ensembl |
|
|
CA10230487 rs559138415 |
17 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756304084 CA10230486 |
17 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324174690 rs936189895 |
18 | S>G | No |
ClinGen Ensembl |
|
|
CA411522031 rs1602037785 |
19 | I>V | No |
ClinGen Ensembl |
|
|
CA411522020 rs1569232952 |
20 | M>I | No |
ClinGen Ensembl |
|
|
rs763650137 CA10230458 |
20 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324174688 rs776202252 |
20 | M>V | No |
ClinGen gnomAD |
|
|
CA411522015 rs1345178291 |
21 | E>K | No |
ClinGen TOPMed |
|
|
rs760173120 CA10230457 COSM4156252 |
22 | Q>H | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10230455 rs771365785 |
25 | P>S | No |
ClinGen ExAC |
|
|
rs552550954 CA10230453 |
26 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484021421 CA411521971 |
28 | E>K | No |
ClinGen TOPMed |
|
|
rs1569232907 CA411521950 |
31 | V>M | No |
ClinGen Ensembl |
|
|
rs1226754924 CA411521940 |
32 | Y>C | No |
ClinGen gnomAD |
|
|
CA324174631 rs987121874 |
33 | L>P | No |
ClinGen Ensembl |
|
|
CA10230451 rs113681022 |
33 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250295644 CA411521930 |
34 | G>D | No |
ClinGen TOPMed |
|
|
CA411521923 rs1377619884 |
35 | N>S | No |
ClinGen gnomAD |
|
|
rs1003730878 CA324174627 |
37 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201026822 CA10230449 |
39 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369914646 CA10230448 |
39 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10230447 rs780130920 |
40 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs893518719 CA324174610 |
40 | A>V | No |
ClinGen TOPMed |
|
|
rs750340593 CA10230445 |
42 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180955272 CA411521879 |
42 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750340593 CA324174599 |
42 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186564887 CA411521877 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1428936901 CA411521861 |
43 | A>V | No |
ClinGen gnomAD |
|
|
CA10230416 rs762357819 |
44 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411521851 rs1602035367 |
45 | S>F | No |
ClinGen Ensembl |
|
|
rs769109503 CA10230414 |
46 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769109503 CA411521850 |
46 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370154603 CA10230412 |
47 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10230413 rs370154603 |
47 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223685934 CA411521834 |
48 | A>V | No |
ClinGen gnomAD |
|
|
CA10230407 rs200319747 |
49 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10230408 rs200319747 |
49 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1016016328 CA324173743 |
50 | V>A | No |
ClinGen TOPMed |
|
|
rs1231196288 CA411521826 |
50 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1343163523 CA411521818 |
51 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10230405 rs777595013 |
53 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA324173734 rs1006444452 |
55 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1283599122 CA411521792 |
55 | I>V | No |
ClinGen gnomAD |
|
|
CA324173733 rs886288562 |
57 | K>E | No |
ClinGen TOPMed |
|
|
CA324173732 rs979338837 |
58 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10230403 rs752362543 |
59 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170194194 CA411521766 |
59 | G>R | No |
ClinGen TOPMed |
|
|
rs780903821 CA10230402 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761918630 CA10230401 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410421614 CA411521749 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1401452882 CA411521744 |
62 | A>V | No |
ClinGen gnomAD |
|
|
CA411521721 rs1477122279 |
65 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411521683 rs1379453468 |
67 | T>I | No |
ClinGen gnomAD |
|
|
rs1293609391 CA411521659 |
69 | Q>* | No |
ClinGen TOPMed |
|
|
rs75885161 CA10230399 |
69 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200727530 CA10230400 |
69 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411521646 rs1207790091 |
70 | I>V | No |
ClinGen gnomAD |
|
|
rs764609892 CA10230396 |
71 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766513505 CA10230373 |
72 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA411521462 rs1161857867 |
73 | E>* | No |
ClinGen gnomAD |
|
|
CA411521457 rs1446938704 |
73 | E>G | No |
ClinGen gnomAD |
|
|
rs1161857867 CA411521466 |
73 | E>K | No |
ClinGen gnomAD |
|
|
CA411521464 rs1161857867 |
73 | E>Q | No |
ClinGen gnomAD |
|
|
rs1187369552 CA411521418 |
75 | L>F | No |
ClinGen gnomAD |
|
|
rs199627808 CA10230371 |
76 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411521412 rs1247031823 |
76 | V>M | No |
ClinGen gnomAD |
|
|
rs769750322 CA10230370 |
78 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1216006987 CA411521381 |
78 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410970203 CA411521368 |
79 | S>P | No |
ClinGen gnomAD |
|
|
CA411521349 rs1450717027 |
80 | D>G | No |
ClinGen gnomAD |
|
|
CA324173311 rs1013270294 |
82 | Q>* | No |
ClinGen gnomAD |
|
|
rs554528952 CA411521311 |
83 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10230368 rs554528952 |
83 | R>Q | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA324173310 rs747999330 |
83 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296872150 CA411521292 |
84 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs758056544 CA10230364 |
88 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230365 rs779847282 |
88 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10230363 rs745384867 |
90 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778517096 CA411521205 CA411521204 |
91 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778517096 CA10230362 |
91 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756684973 CA10230361 |
92 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA324168231 rs765031495 |
94 | Q>H | No |
ClinGen Ensembl |
|
|
CA10230333 rs765412096 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1346435519 CA411520712 |
96 | F>S | No |
ClinGen gnomAD |
|
|
CA10230332 rs761793039 |
96 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA324168218 rs962391577 |
97 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs962391577 CA411520704 |
97 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753887159 CA10230331 |
99 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411520662 rs1458665714 |
104 | M>V | No |
ClinGen TOPMed |
|
|
CA411520640 rs1173977069 |
106 | K>N | No |
ClinGen TOPMed |
|
|
rs1405351402 CA411520635 |
107 | N>T | No |
ClinGen TOPMed |
|
|
rs1299177771 CA411520629 |
108 | T>A | No |
ClinGen gnomAD |
|
|
CA10230329 rs763950037 |
108 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760640401 CA10230328 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230326 rs771971719 |
116 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA411520551 rs1602016951 |
117 | D>A | No |
ClinGen Ensembl |
|
|
rs1367214132 CA411520553 |
117 | D>H | No |
ClinGen gnomAD |
|
|
CA10230303 rs769275796 |
119 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371204360 CA10230302 |
119 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411520535 rs371204360 |
119 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775968335 CA10230301 |
121 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772498507 CA10230300 |
122 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746229242 CA10230299 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1489942057 CA411520495 |
125 | E>A | No |
ClinGen gnomAD |
|
|
CA10230298 rs200330597 |
125 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411520488 rs1358729811 |
126 | Y>F | No |
ClinGen TOPMed |
|
|
CA411520487 rs1358729811 |
126 | Y>S | No |
ClinGen TOPMed |
|
|
rs1294414240 CA411520469 |
129 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411520456 rs1203547376 |
131 | A>V | No |
ClinGen TOPMed |
|
|
rs757451621 CA10230297 |
132 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs553752701 CA10230295 |
136 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753624045 CA10230294 |
138 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300085477 CA411520378 COSM3424166 |
142 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs530602449 CA10230292 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs530602449 CA324167875 |
142 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA411520374 rs1367154099 |
143 | M>L | No |
ClinGen gnomAD |
|
|
rs745998475 CA10230291 |
143 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411520375 rs1367154099 |
143 | M>V | No |
ClinGen gnomAD |
|
|
CA411520366 rs1428990748 |
144 | E>K | No |
ClinGen gnomAD |
|
|
CA10230289 rs766169557 |
145 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367764330 CA10230288 |
145 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367764330 CA10230287 |
145 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10230285 rs761314064 |
146 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs1198353041 CA411520354 |
146 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10230284 rs776060117 |
147 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602016668 CA411520335 |
149 | K>E | No |
ClinGen Ensembl |
|
|
CA411520329 rs1200664794 |
149 | K>N | No |
ClinGen gnomAD |
|
|
rs1602016638 CA411520315 |
151 | V>G | No |
ClinGen Ensembl |
|
|
rs1271591983 CA411520319 |
151 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411520318 rs1271591983 |
151 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772588519 CA10230282 |
152 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10230281 rs746344585 |
152 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1441878268 CA411520310 |
153 | E>Q | No |
ClinGen gnomAD |
|
|
rs763652103 CA10230246 |
157 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA324232194 rs925670315 |
158 | V>E | No |
ClinGen Ensembl |
|
|
rs1244122926 CA411519060 |
159 | N>S | No |
ClinGen TOPMed |
|
|
rs1320678171 CA411519053 |
160 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA411519055 rs1038870576 |
160 | R>W | No |
ClinGen TOPMed |
|
|
rs1401718878 CA411519048 |
161 | L>P | No |
ClinGen gnomAD |
|
|
rs760237284 CA10230245 |
162 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10230243 rs766933358 |
163 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10230242 rs763331261 CA411519019 |
165 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1450768366 CA411519000 |
168 | F>S | No |
ClinGen gnomAD |
|
|
CA411518995 rs1569225319 |
169 | V>L | No |
ClinGen Ensembl |
|
|
rs1289350731 CA411518986 |
170 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10230239 rs762188125 |
172 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747122032 CA10230236 |
174 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs747122032 CA411518958 |
174 | R>Q | Variant assessed as Somatic; 9.278e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 177 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540408118 CA324232123 |
177 | E>Q | No |
ClinGen gnomAD |
|
|
CA10230235 rs775380722 |
178 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs954605577 CA324232109 |
180 | E>D | No |
ClinGen TOPMed |
|
|
CA10230234 rs772075601 |
181 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030186966 CA324232096 |
182 | R>G | No |
ClinGen TOPMed |
|
|
rs745773152 CA10230233 |
182 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1345214549 CA411518905 COSM238939 |
183 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA411518904 COSM186747 rs778728193 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10230232 rs778728193 |
183 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA639216939 rs1427072205 |
184 | Y>* | No |
ClinGen gnomAD |
|
|
CA10230231 rs757032235 |
185 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA411518883 rs1186171569 |
186 | F>L | No |
ClinGen TOPMed |
|
|
rs911721356 CA324232088 |
187 | L>V | No |
ClinGen Ensembl |
|
|
CA10230230 rs749016513 |
188 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs373842998 CA10230228 |
191 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987426026 CA324232075 |
191 | H>R | No |
ClinGen Ensembl |
|
|
rs777493896 CA10230229 |
191 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230226 rs759020049 |
192 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759020049 CA10230225 |
192 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388627656 CA411518844 |
193 | L>R | No |
ClinGen TOPMed |
|
|
rs1266470182 CA411518847 |
193 | L>V | No |
ClinGen gnomAD |
|
|
rs1490488682 CA411518841 |
194 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs918627009 CA324232057 |
194 | L>P | No |
ClinGen Ensembl |
|
|
CA411518833 rs1250756232 |
195 | S>F | No |
ClinGen gnomAD |
|
|
rs765760012 CA10230223 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230221 rs777081479 |
199 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777081479 CA411518809 |
199 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1226722215 CA411518781 |
203 | G>C | No |
ClinGen TOPMed |
|
|
CA411518777 rs370193273 |
204 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411518776 rs375940285 |
204 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs375940285 CA10230217 |
204 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370193273 CA10230218 |
204 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411518760 rs1487019239 |
205 | A>S | No |
ClinGen gnomAD |
|
|
CA411518755 rs1287215113 |
206 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1287215113 CA411518753 |
206 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA324223932 rs1044325960 |
206 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA324223920 rs945654035 |
207 | G>W | No |
ClinGen TOPMed |
|
|
rs1290381104 CA411518730 |
210 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913532176 CA324223912 |
210 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1040060996 CA324223889 |
211 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10230189 rs780708888 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433801972 CA411518707 |
214 | L>M | No |
ClinGen gnomAD |
|
|
CA324223844 rs944379146 |
218 | E>Q | No |
ClinGen TOPMed |
|
|
rs910291930 CA324223827 |
219 | Q>* | No |
ClinGen TOPMed |
|
|
rs910291930 CA411518672 |
219 | Q>E | No |
ClinGen TOPMed |
|
|
CA411518667 rs1375071053 |
219 | Q>H | No |
ClinGen gnomAD |
|
|
rs985913640 CA324223816 |
220 | S>P | No |
ClinGen TOPMed |
|
|
CA411518664 rs1292927809 |
220 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1601998587 CA411518651 |
222 | A>D | No |
ClinGen Ensembl |
|
|
CA324223804 rs951857069 |
222 | A>T | No |
ClinGen TOPMed |
|
|
rs1569219415 CA411518646 |
223 | S>C | No |
ClinGen Ensembl |
|
|
CA324223795 rs920443445 |
225 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 226 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324223788 rs972361341 |
226 | P>S | No |
ClinGen TOPMed |
|
|
CA324223771 rs564837714 |
228 | R>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA324223770 rs1024664852 |
229 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1375679291 CA411518606 |
230 | H>Y | No |
ClinGen TOPMed |
|
|
rs1013526799 CA324223768 |
233 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411518586 rs1013526799 |
233 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313046789 CA411518554 |
238 | A>V | No |
ClinGen TOPMed |
|
|
CA324223762 rs960726795 |
239 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1601998399 CA411518538 |
241 | P>L | No |
ClinGen Ensembl |
|
|
rs1393609958 CA411518535 |
242 | P>S | No |
ClinGen TOPMed |
|
|
rs1282997561 CA411518512 |
245 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1340855513 CA411518509 |
246 | G>C | No |
ClinGen gnomAD |
|
|
rs1002244677 CA324223745 |
247 | R>C | No |
ClinGen TOPMed |
|
|
CA411518498 rs1204153684 |
248 | L>P | No |
ClinGen TOPMed |
|
|
CA411518492 rs868560844 |
249 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA324223735 rs868560844 |
249 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs868560844 CA411518491 |
249 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411518485 rs1485587653 |
250 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411518483 rs1422648528 |
251 | T>P | No |
ClinGen gnomAD |
|
|
rs1458418013 CA411518474 |
252 | C>F | No |
ClinGen gnomAD |
|
|
CA10230188 rs17856487 |
252 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411518456 rs1453781991 |
255 | M>L | No |
ClinGen TOPMed |
|
|
CA411518457 rs1453781991 |
255 | M>V | No |
ClinGen TOPMed |
|
|
rs559304170 CA10230182 |
256 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293448988 CA411518414 |
259 | P>L | No |
ClinGen TOPMed |
|
|
rs754280836 CA10230181 |
259 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411518409 rs1323995808 |
260 | L>R | No |
ClinGen TOPMed |
|
|
CA10230180 rs778259410 |
261 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756431357 CA10230179 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1390768256 CA411518403 |
262 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1486415930 CA411518389 |
263 | F>L | No |
ClinGen TOPMed |
|
|
rs1555963605 CA411518387 |
264 | S>G | No |
ClinGen Ensembl |
|
|
rs1166265177 CA411518377 |
265 | S>Y | No |
ClinGen gnomAD |
|
|
rs1207045630 CA411518372 |
266 | P>S | No |
ClinGen TOPMed |
|
|
CA10230177 rs534150138 |
267 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534150138 CA324223428 |
267 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759713606 CA10230175 |
268 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751676680 CA10230174 |
269 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763002878 CA10230173 |
270 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518341 rs1373236996 |
271 | G>D | No |
ClinGen TOPMed |
|
|
rs573298242 CA10230171 |
272 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10230169 rs761523276 |
274 | S>C | No |
ClinGen ExAC |
|
|
CA411518317 rs1317836600 |
275 | Y>* | No |
ClinGen TOPMed |
|
|
CA411518297 rs746632355 |
278 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518304 rs1347403345 |
278 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA411518287 COSM1190450 rs1249720654 |
280 | D>A | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1275250911 CA411518288 |
280 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1275250911 CA411518290 |
280 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA411518279 rs1238199369 |
281 | A>G | No |
ClinGen gnomAD |
|
|
rs984991078 CA324223331 |
281 | A>P | No |
ClinGen TOPMed |
|
|
rs984991078 CA411518281 |
281 | A>T | No |
ClinGen TOPMed |
|
|
rs1238199369 CA411518278 |
281 | A>V | No |
ClinGen gnomAD |
|
|
rs1050105502 CA324223317 |
282 | R>K | No |
ClinGen TOPMed |
|
|
rs749874662 CA10230160 |
284 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs749874662 CA411518265 |
284 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA324223282 rs569375811 |
284 | A>V | No |
ClinGen 1000Genomes |
|
|
CA411518253 rs1460036612 |
286 | Q>* | No |
ClinGen TOPMed |
|
|
rs1374684088 CA411518246 |
287 | L>V | No |
ClinGen TOPMed |
|
|
CA324223274 rs969339891 |
288 | E>K | No |
ClinGen TOPMed |
|
|
CA411518241 rs969339891 |
288 | E>Q | No |
ClinGen TOPMed |
|
|
CA10230159 rs778148253 |
290 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518218 rs1336268486 |
291 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs753033334 CA10230157 |
292 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252010549 CA411518214 |
292 | R>H | No |
ClinGen TOPMed |
|
|
rs1427661816 CA411518205 |
294 | L>M | No |
ClinGen gnomAD |
|
|
rs781504410 CA10230156 |
294 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250247938 CA411518197 |
295 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA324223215 rs1035677770 |
295 | P>S | No |
ClinGen gnomAD |
|
|
CA411518194 rs1184611625 |
296 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1184611625 CA411518195 |
296 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755240215 CA10230155 |
296 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230154 rs751764483 |
297 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs751764483 CA324223212 |
297 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1250645326 CA411518182 |
298 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1324477196 CA411518176 |
299 | S>L | No |
ClinGen TOPMed |
|
|
CA411518153 rs781592542 |
301 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781592542 CA10230139 |
301 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230138 rs755329860 |
302 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755329860 CA324223037 |
302 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324223020 rs867330342 |
303 | L>F | No |
ClinGen Ensembl |
|
|
CA411518126 rs1029275263 |
306 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1029275263 CA324223002 |
306 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1401974278 CA411518121 |
307 | S>G | No |
ClinGen Ensembl |
|
|
rs1035961577 CA324222994 |
308 | A>T | No |
ClinGen Ensembl |
|
|
rs1569218137 CA411518105 |
309 | Q>R | No |
ClinGen Ensembl |
|
|
rs780264497 CA10230136 |
310 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1249341915 CA411518089 |
311 | S>L | No |
ClinGen gnomAD |
|
|
CA411518092 rs1406536261 |
311 | S>P | No |
ClinGen gnomAD |
|
|
rs750504278 CA10230134 |
312 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518084 rs750504278 |
312 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518085 rs750504278 |
312 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411518088 rs1601994344 |
312 | R>S | No |
ClinGen Ensembl |
|
|
rs1355381383 CA411518078 |
313 | S>F | No |
ClinGen TOPMed |
|
|
rs757193419 CA10230132 |
314 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1490164983 CA411518060 |
316 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1266608796 CA411518052 |
317 | G>D | No |
ClinGen gnomAD |
|
|
rs753816499 CA10230131 |
318 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230130 rs764049790 |
319 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA411518043 rs1485485469 |
319 | R>S | No |
ClinGen gnomAD |
|
|
CA411518038 rs1214170714 |
320 | P>A | No |
ClinGen gnomAD |
|
|
rs1337749619 CA411518033 |
320 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1337749619 CA411518034 |
320 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1439245137 CA411518011 |
324 | G>E | No |
ClinGen gnomAD |
|
|
rs1301774810 CA411518014 |
324 | G>R | No |
ClinGen gnomAD |
|
|
rs1439245137 CA411518009 |
324 | G>V | No |
ClinGen gnomAD |
|
|
CA10230126 rs767099374 |
325 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759195108 CA10230125 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411517991 rs1382602096 |
328 | R>G | No |
ClinGen TOPMed |
|
|
CA411517988 rs1433038551 |
328 | R>K | No |
ClinGen TOPMed |
|
|
CA10230124 rs773780836 |
330 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs748718248 CA10230122 |
330 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10230123 rs748718248 |
330 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA411517975 rs1301434905 |
331 | A>T | No |
ClinGen gnomAD |
|
|
rs1488787780 CA411517967 |
332 | L>R | No |
ClinGen gnomAD |
|
|
CA411517952 rs769089800 |
335 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs201140269 CA324222865 |
335 | H>Q | No |
ClinGen Ensembl |
|
|
rs769089800 CA10230120 |
335 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411517944 rs1203982086 |
336 | S>A | No |
ClinGen gnomAD |
|
|
rs747393218 CA10230119 |
336 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411517939 rs1366092947 |
337 | E>Q | No |
ClinGen gnomAD |
|
|
CA411517932 rs1219494320 |
338 | G>S | No |
ClinGen gnomAD |
|
|
rs1221415842 CA411517915 |
340 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411517900 rs1368991339 |
342 | T>M | No |
ClinGen gnomAD |
|
|
rs778920958 CA10230114 |
345 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778920958 CA411517885 |
345 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230111 rs764141561 |
348 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10230112 rs753904518 |
348 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324222804 rs1048793535 |
349 | G>R | No |
ClinGen Ensembl |
|
|
CA10230109 rs370080453 |
351 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 355 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324222758 rs895622217 |
356 | V>M | No |
ClinGen TOPMed |
|
|
CA411517802 rs1270322471 |
359 | A>T | No |
ClinGen TOPMed |
|
|
CA411517794 rs1254617955 |
360 | Q>E | No |
ClinGen gnomAD |
|
|
CA324222754 rs947918822 |
360 | Q>R | No |
ClinGen Ensembl |
|
|
rs916395818 CA324222744 |
361 | N>S | No |
ClinGen gnomAD |
|
|
CA411517779 rs772656015 |
362 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs939222100 CA324222717 |
362 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs939222100 CA411517781 |
362 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772656015 CA10230103 |
362 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA411517765 rs1449685223 |
364 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA411517757 rs528397864 |
365 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA324222678 rs937200968 |
365 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs775771080 CA10230100 |
366 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA324222600 rs927201443 |
369 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA411517738 rs927201443 |
369 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779202347 CA10230096 |
370 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10230094 rs771221773 |
371 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1444234132 | 372 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10230092 rs373008506 |
372 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402126835 CA411517721 |
372 | S>T | No |
ClinGen TOPMed |
|
|
CA10230091 rs201879183 |
373 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325047324 CA411517715 |
373 | A>T | No |
ClinGen TOPMed |
|
|
rs201879183 CA10230090 |
373 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10230060 rs561392868 |
374 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458595587 CA411517698 |
374 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411517693 rs1168795116 |
375 | G>D | No |
ClinGen gnomAD |
|
|
rs945581500 CA324220136 |
375 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375832280 CA10230058 |
376 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375832280 CA10230059 |
376 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324220105 rs371554829 |
378 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA324220082 rs774819763 |
379 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10230056 rs774819763 |
379 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10230054 rs763333883 |
380 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA324220062 rs3747168 |
381 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411517653 rs1200168710 |
382 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411517654 rs1200168710 |
382 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs776528588 CA10230050 |
384 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768675307 CA411517626 |
386 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs746901791 CA10230048 |
386 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10230049 rs768675307 |
386 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10230047 rs779885815 |
387 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs745599388 CA10230045 |
387 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778552264 CA10230044 |
388 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1023497258 CA324219917 |
389 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 390 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199751065 CA10230039 |
390 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA324219867 rs975130668 |
391 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201411605 CA10230036 COSM1034097 |
392 | P>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA411517590 rs1194158661 |
393 | M>V | No |
ClinGen gnomAD |
|
|
rs763422301 CA324219829 |
394 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs763422301 CA10230034 |
394 | T>N | No |
ClinGen ExAC TOPMed |
|
|
CA10230033 rs763422301 |
394 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1200109806 CA411517575 |
395 | P>L | No |
ClinGen gnomAD |
|
|
CA324219822 rs965208483 |
395 | P>S | No |
ClinGen TOPMed |
|
|
rs201090429 CA10230030 |
396 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411517567 rs1346861171 |
397 | T>A | No |
ClinGen gnomAD |
|
|
CA10230026 rs200410419 |
398 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1238268544 CA411517555 |
399 | M>K | No |
ClinGen gnomAD |
|
|
CA10230019 rs199842190 |
399 | M>V | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA411517550 rs1601986981 |
400 | T>P | No |
ClinGen Ensembl |
|
|
rs200068984 CA10230013 |
401 | S>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs899570690 CA411517536 |
402 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324219617 rs899570690 |
402 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA324219624 rs537336993 |
402 | M>V | No |
ClinGen 1000Genomes |
|
|
rs200520591 CA324219616 |
403 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039893973 CA324219603 |
403 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200520591 CA10230011 |
403 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111783779 CA10230009 |
404 | S>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1333917635 CA411517527 |
404 | S>Y | No |
ClinGen gnomAD |
|
|
rs201030553 CA10230006 |
405 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411517522 rs201030553 |
405 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747038353 CA10230007 |
405 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10230001 rs78489217 |
406 | S>T | No |
ClinGen 1000Genomes TOPMed |
|
|
TCGA novel rs1262419647 |
407 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10229991 rs142001534 |
407 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs770659045 CA10229988 |
408 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs370534568 CA324219436 |
409 | T>S | No |
ClinGen Ensembl |
|
|
CA411517481 CA10229981 rs748871895 |
411 | M>I | No |
ClinGen ExAC |
|
|
rs971404835 CA324219404 |
412 | N>K | No |
ClinGen TOPMed |
|
|
CA411517476 rs1464215964 |
412 | N>S | No |
ClinGen TOPMed |
|
|
CA411517469 rs1443879002 |
413 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10229975 rs200076100 |
414 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229976 rs200076100 |
414 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758930031 CA10229973 |
416 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA411517455 rs1351481458 |
416 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411517404 rs937262722 |
422 | Y>C | No |
ClinGen gnomAD |
|
|
CA324218459 rs937262722 |
422 | Y>S | No |
ClinGen gnomAD |
|
|
rs200971843 CA411517400 |
423 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200971843 CA10229957 |
423 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1601981661 CA411517391 |
424 | L>P | No |
ClinGen Ensembl |
|
|
rs371417992 CA411517389 |
425 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10229955 rs543565536 |
425 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371417992 CA10229956 |
425 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411517383 rs1406725562 |
426 | G>A | No |
ClinGen gnomAD |
|
|
CA411517384 rs1406725562 |
426 | G>D | No |
ClinGen gnomAD |
|
|
rs972434398 CA324218449 |
426 | G>R | No |
ClinGen TOPMed |
|
|
rs779404687 CA10229953 |
428 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA411517370 rs1425549209 |
428 | H>L | No |
ClinGen gnomAD |
|
|
rs1425549209 CA411517372 |
428 | H>P | No |
ClinGen gnomAD |
|
|
rs779404687 CA10229954 |
428 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10229950 rs377442253 |
431 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411517344 rs1601981337 |
432 | D>A | No |
ClinGen Ensembl |
|
|
CA10229949 rs564298739 |
432 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1601981288 CA411517325 |
435 | D>A | No |
ClinGen Ensembl |
|
|
rs201761880 CA10229946 |
436 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10229945 rs201761880 |
436 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10229947 rs767564093 |
436 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229944 rs770842791 |
437 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411517316 rs1280531817 |
437 | P>S | No |
ClinGen gnomAD |
|
|
rs1280531817 CA411517318 |
437 | P>T | No |
ClinGen gnomAD |
|
|
rs762677961 CA411517289 |
441 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411517287 rs1601981169 |
441 | I>T | No |
ClinGen Ensembl |
|
|
rs762677961 CA10229943 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553799224 CA10229941 |
444 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553799224 CA10229942 |
444 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541462698 CA10229940 |
445 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369923129 CA411517253 |
446 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA639395749 rs1402172513 |
446 | Y>* | No |
ClinGen gnomAD |
|
|
rs1569214507 CA411517232 |
449 | G>A | No |
ClinGen Ensembl |
|
|
CA411517218 rs1157750111 |
451 | S>F | No |
ClinGen gnomAD |
|
|
CA411517220 rs1479018889 |
451 | S>P | No |
ClinGen gnomAD |
|
|
CA10229938 rs376182024 |
452 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779305691 CA10229936 |
452 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229937 rs376182024 |
452 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10229935 rs757737079 |
453 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229934 rs749648034 |
454 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10229933 rs113792005 |
454 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113792005 CA324218321 |
454 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752903550 CA10229929 |
455 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs989145117 CA324218284 |
455 | T>P | No |
ClinGen Ensembl |
|
|
rs767658004 CA10229927 |
457 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755062195 CA10229926 |
457 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229924 rs373246008 |
458 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10229925 rs751607675 |
458 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1018522938 CA411517178 |
460 | P>S | No |
ClinGen gnomAD |
|
|
rs1018522938 CA324218215 |
460 | P>T | No |
ClinGen gnomAD |
|
|
rs183519165 CA10229921 |
461 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183519165 CA10229922 |
461 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761622050 CA10229920 |
462 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537624589 CA10229919 |
462 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411517159 rs1158183006 |
463 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10229917 rs746544515 |
466 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775029925 CA10229916 |
467 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA411517127 rs1284684779 |
469 | P>A | No |
ClinGen gnomAD |
|
|
rs771382363 CA10229915 |
469 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10229912 rs557966274 |
472 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411517107 rs557966274 |
472 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411517096 rs1569214234 |
474 | S>R | No |
ClinGen Ensembl |
|
|
rs748452614 CA10229910 |
475 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10229908 rs755152396 |
475 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755152396 CA10229909 |
475 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994323717 CA324218131 |
476 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10229907 rs751630378 |
476 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411517079 rs1382271667 |
477 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411517063 rs1423509910 |
479 | M>T | No |
ClinGen gnomAD |
|
|
CA10229906 rs766457113 |
479 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758321151 CA10229905 |
480 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750367236 CA10229904 |
482 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263023052 CA411517032 |
484 | V>F | No |
ClinGen gnomAD |
|
|
CA411517013 rs1412707566 |
487 | D>A | No |
ClinGen TOPMed |
|
|
rs761716163 CA10229902 |
488 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411516983 rs1467641077 |
490 | K>E | No |
ClinGen gnomAD |
|
|
CA324217502 rs773808608 |
491 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198795404 CA411516975 |
491 | L>P | No |
ClinGen gnomAD |
|
|
rs773808608 CA10229874 |
491 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368625419 CA10229873 |
493 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10229872 rs368625419 |
493 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368625419 CA324217491 |
493 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10229871 rs777033428 |
495 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1308804334 CA411516946 |
496 | Q>* | No |
ClinGen Ensembl |
|
|
CA411516942 rs188514363 |
496 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA324217465 rs1043666613 |
497 | Y>H | No |
ClinGen Ensembl |
|
|
rs200743088 CA10229868 |
498 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10229869 rs747267486 |
498 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757454424 CA10229866 |
499 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394594680 CA411516913 |
501 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10229865 rs779109789 |
502 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411516907 rs779109789 |
502 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757314105 CA10229864 |
503 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1329381327 CA411516890 |
504 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411516887 rs1441904691 |
505 | R>K | No |
ClinGen gnomAD |
|
|
CA10229831 rs757913436 |
512 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569213367 CA411516816 |
512 | T>P | No |
ClinGen Ensembl |
|
|
rs749883523 CA10229830 |
514 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10229829 rs201216387 |
516 | R>C | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761059410 CA10229828 |
516 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201270159 CA10229827 |
517 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs924474617 CA324216924 |
521 | N>D | No |
ClinGen Ensembl |
|
|
rs767759842 CA10229826 |
521 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10229825 rs779817371 |
523 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411516727 rs779817371 |
523 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372997857 CA10229824 |
523 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10229822 rs749408989 |
524 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979034142 CA324216898 |
526 | P>L | No |
ClinGen Ensembl |
|
|
rs1569213269 CA411516711 |
526 | P>S | No |
ClinGen Ensembl |
|
|
CA411516708 rs1319780503 |
527 | L>I | No |
ClinGen gnomAD |
|
|
CA10229821 rs201660818 |
529 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185758992 CA10229820 |
529 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10229819 rs185758992 COSM149296 |
529 | R>L | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q6UXY1
16 regional properties for Q6UXY1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 1450 - 1535 | IPR001478 |
| repeat | Leucine-rich repeat | 46 - 102 | IPR001611-1 |
| repeat | Leucine-rich repeat | 139 - 195 | IPR001611-2 |
| repeat | Leucine-rich repeat | 208 - 275 | IPR001611-3 |
| repeat | Leucine-rich repeat | 346 - 402 | IPR001611-4 |
| repeat | Leucine-rich repeat, typical subtype | 48 - 68 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 91 - 113 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 137 - 159 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 160 - 182 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 183 - 205 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 206 - 228 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 229 - 252 | IPR003591-7 |
| repeat | Leucine-rich repeat, typical subtype | 253 - 274 | IPR003591-8 |
| repeat | Leucine-rich repeat, typical subtype | 275 - 298 | IPR003591-9 |
| repeat | Leucine-rich repeat, typical subtype | 321 - 344 | IPR003591-10 |
| repeat | Leucine-rich repeat, typical subtype | 367 - 389 | IPR003591-11 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell contact zone | Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. |
| clathrin complex | A protein complex that consists of three clathrin heavy chains and three clathrin light chains, organized into a symmetrical three-legged structure called a triskelion. In clathrin-coated vesicles clathrin is the main component of the coat and forms a polymeric mechanical scaffold on the vesicle surface. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| actin crosslink formation | The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes. |
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| membrane organization | A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. |
| plasma membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. |
| positive regulation of actin cytoskeleton reorganization | Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization. |
| positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UHR4 | BAIAP2L1 | Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 | Homo sapiens (Human) | PR |
| Q9UQB8 | BAIAP2 | Brain-specific angiogenesis inhibitor 1-associated protein 2 | Homo sapiens (Human) | EV |
| Q8BKX1 | Baiap2 | BAR/IMD domain-containing adapter protein 2 | Mus musculus (Mouse) | SS |
| Q80Y61 | Baiap2l2 | Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPEMDQFYR | STMAIYKSIM | EQFNPALENL | VYLGNNYLRA | FHALSEAAEV | YFSAIQKIGE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RALQSPTSQI | LGEILVQMSD | TQRHLNSDLE | VVVQTFHGGL | LQHMEKNTKL | DMQFIKDSRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HYELEYRHRA | ANLEKCMSEL | WRMERKRDKN | VREMKESVNR | LHAQMQAFVS | ESQRAAELEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRRYRFLAEK | HLLLSNTFLQ | FFGRARGMLQ | NRVLLWKEQS | EASRSPSRAH | SPGLLGPALG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PPYPSGRLTP | TCLDMPPRPL | GEFSSPRSRH | GSGSYGTEPD | ARPASQLEPD | RRSLPRTPSA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSLYSGSAQS | SRSNSFGERP | GGGGGARRVR | ALVSHSEGAN | HTLLRFSAGD | VVEVLVPEAQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NGWLYGKLEG | SSASGWFPEA | YVKALEEGPV | NPMTPVTPMT | SMTSMSPMTP | MNPGNELPSR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SYPLRGSHSL | DDLLDRPGNS | IAPSEYWDGQ | SRSRTPSRVP | SRAPSPAPPP | LPSSRRSSMG |
| 490 | 500 | 510 | 520 | ||
| STAVATDVKK | LMSSEQYPPQ | ELFPRGTNPF | ATVKLRPTIT | NDRSAPLIR |