Q9Y597
PR
Gene name |
KCTD3 |
Protein name |
BTB/POZ domain-containing protein KCTD3 |
Names |
Renal carcinoma antigen NY-REN-45 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51133 |
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 Q9Y597
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y597-F1 | Predicted | AlphaFoldDB |
489 variants for Q9Y597
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs730882243 RCV000162179 |
346 | P>missing | Congenital cerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1391992 rs773967382 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs947363629 CA37869080 |
3 | G>E | No |
ClinGen TOPMed |
|
|
rs1226013499 CA344902199 |
3 | G>R | No |
ClinGen TOPMed |
|
|
rs1571865239 CA344902211 |
4 | G>E | No |
ClinGen Ensembl |
|
|
rs1279353732 CA344902208 |
4 | G>R | No |
ClinGen TOPMed |
|
|
CA344902236 rs1375102918 |
6 | C>* | No |
ClinGen gnomAD |
|
|
CA344902245 rs1300254888 |
7 | G>D | No |
ClinGen gnomAD |
|
|
rs1433140088 CA344902240 |
7 | G>S | No |
ClinGen gnomAD |
|
|
rs1414374457 CA344902252 |
8 | S>G | No |
ClinGen TOPMed |
|
|
CA344902259 rs761448532 |
8 | S>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_027156 CA1391995 rs2275768 |
9 | F>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754175683 CA1391996 |
11 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344902297 rs1486399574 |
12 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1260941577 CA344902295 |
12 | A>S | No |
ClinGen gnomAD |
|
|
rs1486399574 CA344902301 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA37869102 rs890223032 |
15 | G>C | No |
ClinGen TOPMed |
|
|
CA344902337 rs1204861079 |
16 | S>N | No |
ClinGen gnomAD |
|
|
rs1488392747 CA344902345 |
17 | G>S | No |
ClinGen TOPMed |
|
|
rs1004601771 CA37869106 |
23 | N>K | No |
ClinGen TOPMed |
|
|
rs1478099579 CA344902434 |
25 | G>A | No |
ClinGen gnomAD |
|
|
CA344902455 rs1421545007 |
27 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1392010 rs773699233 |
28 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA37870810 rs902225952 |
33 | R>G | No |
ClinGen TOPMed |
|
|
rs767036571 CA1392012 |
35 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1023686454 CA37870814 |
36 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1219006769 CA344903379 |
37 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1392013 rs772811324 |
37 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA344903376 rs1234217509 |
37 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760324422 CA1392014 |
41 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA344903475 rs1176349828 |
45 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392031 rs760305977 |
50 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA37870886 COSM1338791 rs1035793514 |
56 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756673299 COSM903803 CA37870888 |
56 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA37870890 rs961433397 |
57 | D>G | No |
ClinGen Ensembl |
|
|
CA344903796 rs1295613368 |
62 | I>V | No |
ClinGen TOPMed |
|
|
CA344903828 rs1558228369 |
64 | I>T | No |
ClinGen Ensembl |
|
|
rs1371905158 CA344903867 |
67 | D>E | No |
ClinGen gnomAD |
|
|
rs1301544347 CA344903896 |
70 | A>T | No |
ClinGen gnomAD |
|
|
CA37871438 rs1001909239 |
72 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs867383137 CA37871440 |
72 | A>V | No |
ClinGen Ensembl |
|
|
rs1164394564 CA344903933 |
73 | P>T | No |
ClinGen gnomAD |
|
|
RCV000784997 rs1558228402 |
80 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 82 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746571322 CA1392050 |
86 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746571322 CA344904085 |
86 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248149649 CA344904434 |
88 | V>L | No |
ClinGen TOPMed |
|
|
CA1392071 rs745471321 |
89 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010745383 CA37872046 |
90 | I>V | No |
ClinGen TOPMed |
|
|
CA1392072 rs769631513 |
91 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354097235 CA344904478 |
91 | N>K | No |
ClinGen gnomAD |
|
|
CA1392073 rs774855223 |
92 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs368035629 CA1392074 |
93 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772585334 CA1392075 |
94 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773725900 CA1392076 |
99 | F>V | No |
ClinGen ExAC gnomAD |
|
|
COSM903806 rs766424324 CA1392078 |
101 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA344904625 rs1410604541 |
104 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344904709 rs1482177695 CA344904708 |
108 | R>S | No |
ClinGen TOPMed |
|
|
rs1054425962 CA37872137 |
117 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs567951649 COSM240319 CA1392098 |
117 | R>H | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs949937969 CA37872143 |
119 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344904887 rs1279161072 |
124 | L>P | No |
ClinGen gnomAD |
|
|
CA344904959 rs1485584966 |
130 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344904960 rs1485584966 |
130 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372012064 CA37872145 |
131 | P>L | No |
ClinGen ESP |
|
|
rs753465450 CA1392126 |
133 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778477465 CA1392128 |
136 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1392130 rs3767261 |
137 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1392129 rs3767261 |
137 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566861222 COSM88583 CA1392131 |
137 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA37872405 rs368752457 |
140 | N>D | No |
ClinGen ESP TOPMed |
|
|
CA344905283 rs1307182936 |
140 | N>K | No |
ClinGen gnomAD |
|
|
CA344905288 rs1371778732 |
141 | N>S | No |
ClinGen TOPMed |
|
|
rs1349734190 CA344905293 |
142 | T>A | No |
ClinGen gnomAD |
|
|
CA1392132 rs746316704 |
142 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1392133 rs538977047 |
143 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538977047 CA344905297 |
143 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1392135 rs749411888 |
145 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933938609 CA37872413 |
146 | A>T | No |
ClinGen TOPMed |
|
|
CA1392137 rs774393776 |
147 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs768904217 CA1392136 |
147 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344905330 rs1251507088 |
148 | S>F | No |
ClinGen gnomAD |
|
|
CA344905327 rs1179170559 |
148 | S>T | No |
ClinGen gnomAD |
|
|
rs374046660 CA1392138 |
149 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA37872421 rs371164388 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1392139 rs371164388 |
151 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA344905352 rs1440735285 |
152 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1440735285 CA344905353 |
152 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1392141 rs771720213 |
155 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392140 rs773195286 |
155 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs766458856 CA1392142 |
157 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1392143 rs189661596 |
157 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs189661596 CA37872427 |
157 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758922915 CA1392144 |
158 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463065870 CA344905392 |
159 | A>S | No |
ClinGen gnomAD |
|
|
rs764835860 CA1392145 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758084276 CA1392147 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752225604 COSM1338792 CA1392146 |
160 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA344905401 rs1286877737 |
161 | G>E | No |
ClinGen gnomAD |
|
|
CA37872436 rs866829898 |
162 | N>D | No |
ClinGen Ensembl |
|
|
CA344905407 rs1357702346 |
162 | N>S | No |
ClinGen gnomAD |
|
|
CA1392148 rs767858716 |
163 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146224994 CA1392149 |
164 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344905425 rs1252152014 |
165 | Q>L | No |
ClinGen gnomAD |
|
|
CA344905424 rs1252152014 |
165 | Q>P | No |
ClinGen gnomAD |
|
|
CA344905426 rs1252152014 |
165 | Q>R | No |
ClinGen gnomAD |
|
|
rs1482871444 CA344905435 |
167 | V>I | No |
ClinGen gnomAD |
|
|
CA344905436 rs1482871444 |
167 | V>L | No |
ClinGen gnomAD |
|
|
rs977594749 CA37872441 |
168 | L>H | No |
ClinGen TOPMed |
|
|
rs756585074 CA1392150 |
169 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344905447 rs1203228831 |
169 | S>P | No |
ClinGen gnomAD |
|
|
CA344905453 rs1571874625 |
170 | G>* | No |
ClinGen Ensembl |
|
|
CA1392151 rs778860191 COSM903808 |
171 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA37872444 rs778860191 |
171 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411518529 CA344905467 |
173 | E>K | No |
ClinGen gnomAD |
|
|
rs1197646885 CA344905492 |
176 | V>D | No |
ClinGen TOPMed |
|
|
CA344905489 rs1429826209 |
176 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754944208 CA1392153 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA344905535 rs1432974513 |
181 | P>A | No |
ClinGen gnomAD |
|
|
rs771498003 CA37872727 |
182 | V>A | No |
ClinGen Ensembl |
|
|
CA1392176 rs758671530 |
182 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs142406247 CA37872730 |
184 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1392177 rs370509594 |
185 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344905568 rs1400472437 |
187 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1392178 rs747264194 |
188 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216410607 CA344905584 |
189 | I>M | No |
ClinGen gnomAD |
|
|
rs928449925 CA37872735 |
190 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344905635 rs1334896229 |
197 | I>L | No |
ClinGen gnomAD |
|
|
CA1392180 rs781147924 |
201 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1571875476 CA344905672 |
202 | A>G | No |
ClinGen Ensembl |
|
|
CA37872743 rs113221093 |
204 | F>S | No |
ClinGen Ensembl |
|
|
CA344905695 rs1300751639 |
206 | V>M | No |
ClinGen TOPMed |
|
|
CA37872747 rs910944619 |
207 | C>S | No |
ClinGen Ensembl |
|
|
rs938436066 CA37872751 |
209 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751757662 CA1392215 |
210 | I>V | No |
ClinGen ExAC |
|
|
COSM1338795 rs1433694824 CA344905744 |
211 | K>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 218 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349556402 CA344905810 |
220 | F>L | No |
ClinGen gnomAD |
|
|
CA1392217 rs372677593 |
221 | T>M | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755901570 CA1392219 |
226 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392220 rs779723592 |
228 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA344905871 rs1199314832 |
228 | T>S | No |
ClinGen gnomAD |
|
|
CA37874654 rs1002990070 |
229 | I>M | No |
ClinGen gnomAD |
|
|
CA1392221 rs749205838 COSM903809 |
230 | E>K | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA344905886 rs1266561187 |
231 | R>* | No |
ClinGen TOPMed |
|
|
CA344905887 rs1478480013 |
231 | R>Q | No |
ClinGen gnomAD |
|
|
CA344905890 rs1190419560 |
232 | V>I | No |
ClinGen gnomAD |
|
|
CA1392223 rs778360428 |
243 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA37874662 rs769618795 |
245 | D>G | No |
ClinGen Ensembl |
|
|
rs1464351964 CA344905998 |
248 | K>E | No |
ClinGen gnomAD |
|
|
rs375582499 CA37874665 |
248 | K>R | No |
ClinGen gnomAD |
|
|
rs771502821 CA1392225 |
252 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1317989414 CA344906035 |
253 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1392228 rs770139728 |
255 | E>K | No |
ClinGen ExAC |
|
|
CA1392229 rs145226766 |
257 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344906070 rs1367706789 |
258 | I>M | No |
ClinGen TOPMed |
|
|
rs774553049 CA1392232 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1392234 rs767528806 |
267 | G>R | No |
ClinGen ExAC |
|
|
rs1208599616 CA344906135 |
268 | S>G | No |
ClinGen gnomAD |
|
|
CA344906154 rs1266331261 |
270 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs969826329 CA37874681 |
273 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1392252 rs767618101 |
274 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA344906774 rs1423214512 |
278 | G>D | No |
ClinGen TOPMed |
|
|
rs773228160 CA1392253 |
279 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344906788 rs1415852220 |
280 | P>A | No |
ClinGen gnomAD |
|
|
rs1558237194 CA344906831 |
284 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 285 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294936605 CA344906854 |
287 | I>V | No |
ClinGen gnomAD |
|
|
CA1392255 rs766554950 |
289 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs754079827 CA1392256 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1392258 rs765021044 |
294 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA37877108 rs142437046 |
294 | T>M | No |
ClinGen ESP TOPMed |
|
|
CA344906906 rs1409585027 |
295 | S>N | No |
ClinGen gnomAD |
|
|
rs1247227655 CA344906920 |
297 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259974176 CA344906940 |
300 | V>L | No |
ClinGen TOPMed |
|
|
rs1186133678 CA344906980 |
306 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 310 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381931318 CA344907019 |
311 | Q>* | No |
ClinGen gnomAD |
|
|
rs776765173 CA1392273 |
312 | V>F | No |
ClinGen ExAC |
|
|
rs759766848 CA1392274 |
314 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414014062 CA344907916 |
317 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369942900 CA1392277 |
318 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1392276 rs369942900 |
318 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150492045 CA1392278 |
320 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1392279 rs751541355 |
321 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1254159860 CA344908166 |
324 | A>V | No |
ClinGen gnomAD |
|
|
CA344908416 rs1257853342 |
333 | N>K | No |
ClinGen TOPMed |
|
|
rs756684322 CA1392280 |
333 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA37878713 rs918261163 |
334 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 337 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344908551 rs1246834156 |
340 | I>V | No |
ClinGen gnomAD |
|
|
rs867059126 CA37878759 |
346 | P>L | No |
ClinGen Ensembl |
|
|
rs866048446 CA37878762 |
346 | P>L | No |
ClinGen Ensembl |
|
|
COSM903811 CA344908825 rs1471614674 |
348 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1427584947 CA344908853 |
349 | M>I | No |
ClinGen gnomAD |
|
|
CA1392300 rs762608483 |
362 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1399011878 CA344909090 |
363 | P>S | No |
ClinGen gnomAD |
|
|
rs1465849935 CA344909180 |
368 | I>V | No |
ClinGen TOPMed |
|
|
CA344909247 rs1241227377 |
372 | S>N | No |
ClinGen gnomAD |
|
|
CA37879269 rs114079200 |
380 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1226328807 CA344909460 |
382 | S>T | No |
ClinGen gnomAD |
|
|
CA344909533 rs1251492438 |
389 | A>T | No |
ClinGen gnomAD |
|
|
rs1331054313 CA344909555 |
390 | Y>C | No |
ClinGen TOPMed |
|
|
rs1436598544 CA344909565 |
391 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA37879274 rs935483369 |
393 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 395 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344909618 rs1472506382 |
396 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1392328 rs764361600 |
398 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1392229472 CA344909651 |
400 | I>T | No |
ClinGen gnomAD |
|
|
rs1393993507 CA344909681 |
403 | H>R | No |
ClinGen gnomAD |
|
|
rs1167754250 CA344909679 |
403 | H>Y | No |
ClinGen gnomAD |
|
|
CA37879280 COSM903814 rs145110049 |
407 | V>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA344909732 rs1334745041 |
407 | V>L | No |
ClinGen gnomAD |
|
|
rs141142430 CA344909772 |
410 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141142430 CA344909771 |
410 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141142430 CA1392333 |
410 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344909848 rs1571893264 |
417 | F>S | No |
ClinGen Ensembl |
|
|
rs768994178 CA1392336 |
421 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1251115310 COSM3418736 CA344909889 |
421 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1392337 rs773991238 |
422 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772020911 CA1392339 |
424 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772020911 CA344909915 |
424 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344909929 rs1441963627 |
425 | T>I | No |
ClinGen gnomAD |
|
|
rs773215363 CA1392340 |
428 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1392342 rs770333349 |
430 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 438 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344910665 rs1324632848 |
443 | H>R | No |
ClinGen gnomAD |
|
|
rs1345199099 CA344910695 |
446 | T>M | No |
ClinGen gnomAD |
|
|
rs759039238 CA1392363 |
447 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs112797825 CA37880273 |
449 | V>A | No |
ClinGen Ensembl |
|
|
CA344910719 rs1238386486 |
449 | V>I | No |
ClinGen gnomAD |
|
|
CA344910722 rs1238386486 |
449 | V>L | No |
ClinGen gnomAD |
|
|
CA1392366 rs762609457 |
451 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267918153 CA344910783 |
455 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412591136 CA344910900 |
466 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766855908 CA1392370 |
470 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1392371 rs754329940 |
471 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1392373 rs372352951 |
473 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147195597 CA1392374 |
475 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868034225 CA37880294 |
476 | T>A | No |
ClinGen Ensembl |
|
|
rs758759313 CA1392375 |
476 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37880298 rs917445454 |
478 | S>G | No |
ClinGen TOPMed |
|
|
rs777680046 CA1392376 |
482 | Y>C | No |
ClinGen ExAC |
|
|
rs1479495843 CA344911080 |
483 | S>F | No |
ClinGen gnomAD |
|
|
rs1213441880 CA344911094 |
485 | G>* | No |
ClinGen TOPMed |
|
|
CA1392377 rs746870087 |
485 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176421533 CA344911126 |
488 | I>V | No |
ClinGen gnomAD |
|
|
CA1392395 rs764354231 |
489 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770654552 CA1392378 |
489 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs375410188 CA37881262 |
492 | G>R | No |
ClinGen ESP |
|
| TCGA novel | 493 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780870230 CA1392398 |
494 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1415036253 CA344911807 |
496 | D>N | No |
ClinGen TOPMed |
|
|
rs1015704611 CA37881268 |
499 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1015704611 CA344911850 |
499 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756081513 CA1392400 |
506 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA344911948 rs1242761198 |
508 | T>P | No |
ClinGen TOPMed |
|
|
rs779531597 CA1392401 |
509 | N>D | No |
ClinGen ExAC |
|
|
rs748850999 CA1392402 |
509 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392403 rs768163370 |
510 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392404 rs773955766 |
514 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA344912017 rs1361375828 |
515 | L>F | No |
ClinGen gnomAD |
|
|
rs144747955 CA1392406 |
520 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1392423 rs778338391 |
522 | I>T | No |
ClinGen ExAC |
|
|
CA344815145 rs1347838342 |
523 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM532705 rs747807604 CA1392424 |
526 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA344815204 rs1471515925 |
527 | A>T | No |
ClinGen TOPMed |
|
|
CA344815238 rs1222257596 |
529 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392425 rs771690664 |
531 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344815268 rs1571904513 |
532 | T>A | No |
ClinGen Ensembl |
|
|
rs781608243 CA1392426 |
533 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392428 rs770287520 |
536 | F>I | No |
ClinGen ExAC |
|
|
CA37360268 rs934996382 |
536 | F>S | No |
ClinGen Ensembl |
|
|
CA1392429 rs776098921 |
539 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA344815434 rs1386057408 |
544 | S>P | No |
ClinGen gnomAD |
|
|
CA344815517 rs1424209521 |
549 | S>L | No |
ClinGen gnomAD |
|
|
CA344815540 rs1161466641 |
551 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768831982 CA1392431 COSM678645 |
553 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1328087802 CA344815561 |
553 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 554 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344815628 rs1381618095 |
563 | S>N | No |
ClinGen gnomAD |
|
|
rs1230153788 CA344815678 |
569 | L>P | No |
ClinGen TOPMed |
|
|
CA344815708 rs1344757367 |
574 | D>N | No |
ClinGen gnomAD |
|
|
rs750666446 CA1392435 |
575 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1392434 rs767686189 |
575 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760426861 CA1392436 |
579 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754951802 CA1392439 |
581 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs753757515 CA1392438 |
581 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766187841 CA1392437 |
581 | D>Y | No |
ClinGen ExAC |
|
|
CA37360425 rs776153201 |
583 | D>G | No |
ClinGen Ensembl |
|
|
CA344815823 rs1571904627 |
583 | D>Y | No |
ClinGen Ensembl |
|
|
rs1464715010 CA344815882 |
584 | V>I | No |
ClinGen TOPMed |
|
|
rs770470316 CA1392455 |
586 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1571904729 CA344815924 |
587 | P>L | No |
ClinGen Ensembl |
|
|
rs1177068120 CA344815925 |
588 | T>P | No |
ClinGen gnomAD |
|
|
CA37360440 rs1029328793 |
589 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA344815995 rs1322178613 |
593 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1289307862 CA344816009 |
594 | K>E | No |
ClinGen TOPMed |
|
|
rs1385258395 CA344816016 |
594 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA37360452 rs953071507 |
597 | D>N | No |
ClinGen TOPMed |
|
|
CA344816053 rs953071507 |
597 | D>Y | No |
ClinGen TOPMed |
|
|
rs777363630 CA1392461 |
605 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1392462 rs149258039 |
605 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 605 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392464 rs780559180 |
610 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344816355 rs772923100 |
611 | I>M | No |
ClinGen gnomAD |
|
|
CA344816407 rs1558248260 |
613 | P>L | No |
ClinGen Ensembl |
|
|
CA344816412 rs1262521345 |
614 | A>T | No |
ClinGen gnomAD |
|
|
CA1392467 rs200014391 |
617 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344816506 rs1453106099 |
618 | V>A | No |
ClinGen gnomAD |
|
|
rs748715752 CA1392468 |
618 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA37360496 rs1018778657 |
619 | Q>R | No |
ClinGen TOPMed |
|
|
CA344816529 rs1268053734 |
620 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344816531 rs1268053734 |
620 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1392470 TCGA novel rs773323864 |
622 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 622 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747229842 CA1392471 |
624 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392472 rs771201972 |
624 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392488 rs748575571 |
630 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA344817185 rs1300405311 |
631 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1392489 rs759014699 |
635 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777819516 CA1392490 |
636 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344817276 COSM209884 rs1558248637 |
637 | T>I | Variant assessed as Somatic; 4.749e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1392491 rs747035565 |
638 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771003517 CA1392492 |
639 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1392493 rs776795540 |
642 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA529001922 rs1251795358 |
644 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344817369 rs1223157478 |
645 | G>D | No |
ClinGen TOPMed |
|
|
CA1392496 rs568916830 |
645 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344817401 rs1330061274 |
648 | R>G | No |
ClinGen TOPMed |
|
|
CA1392497 rs747056267 |
649 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1392498 rs762794206 |
650 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 654 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 654 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392499 rs764182521 |
659 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334756976 CA344817524 |
660 | R>G | No |
ClinGen TOPMed |
|
|
rs761335988 CA1392502 |
661 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 661 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750025083 CA1392503 |
664 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA344817565 rs1355653488 |
665 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344817570 rs1240646910 |
666 | H>R | No |
ClinGen Ensembl |
|
|
rs756398946 CA1392505 |
668 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344817586 rs756398946 |
668 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457486971 CA344817596 |
670 | D>N | No |
ClinGen TOPMed |
|
|
CA344817609 rs1453736278 |
671 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1453736278 CA344817608 |
671 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1336304939 CA344817619 |
672 | Q>H | No |
ClinGen gnomAD |
|
|
rs1216075478 CA344817639 |
675 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs531572498 CA1392507 |
675 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344817651 rs1295967758 |
677 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306861552 CA344817655 |
678 | R>G | No |
ClinGen gnomAD |
|
|
CA1392508 rs141252284 |
678 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1392509 rs752091917 |
681 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1392510 rs764130996 |
682 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344817684 rs1571905611 |
682 | R>T | No |
ClinGen Ensembl |
|
|
CA37361055 rs1050214793 |
683 | A>P | No |
ClinGen TOPMed |
|
|
CA344817692 COSM903820 rs1444590862 |
683 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs781296290 CA1392511 |
684 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344817702 rs1188677991 |
685 | P>L | No |
ClinGen gnomAD |
|
|
CA1392512 rs746045454 |
685 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1392513 rs374649981 |
686 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779699158 CA1392514 |
687 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1241741035 CA344817712 |
687 | N>Y | No |
ClinGen TOPMed |
|
|
CA1392515 rs749050996 COSM1689831 |
688 | G>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344817740 rs1431612474 |
691 | G>D | No |
ClinGen gnomAD |
|
|
rs377727908 CA1392516 |
693 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA37361142 rs891132462 |
694 | Q>R | No |
ClinGen TOPMed |
|
|
rs1176029393 CA344817793 |
699 | G>E | No |
ClinGen gnomAD |
|
|
rs371136563 CA1392517 |
700 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1392518 rs761861112 |
701 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344817812 rs1571905697 |
703 | E>K | No |
ClinGen Ensembl |
|
|
rs1485596984 CA344817839 |
706 | I>T | No |
ClinGen gnomAD |
|
|
rs771681462 CA1392519 |
706 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772849762 CA1392520 |
707 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344817849 rs772849762 |
707 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs772849762 CA37361185 |
707 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 709 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375708623 CA1392521 |
710 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344817910 rs1222409149 |
712 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766000351 CA1392522 |
713 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37361204 rs766000351 |
713 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350046939 CA344817930 |
714 | V>I | No |
ClinGen TOPMed |
|
|
rs1018873533 CA37361225 |
715 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1558248871 CA344817965 |
716 | I>M | No |
ClinGen Ensembl |
|
|
rs1483434859 CA344817960 |
716 | I>T | No |
ClinGen Ensembl |
|
|
rs753439799 CA1392523 |
718 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1485737587 CA344818015 |
720 | R>I | No |
ClinGen gnomAD |
|
|
CA344818061 rs1192185245 |
723 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 723 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763263618 CA1392524 |
724 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764466122 CA1392525 |
726 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1392526 rs752038729 |
727 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757800901 CA37361252 |
728 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392527 rs757800901 |
728 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344818131 rs781243677 |
729 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392528 rs781243677 |
729 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344818127 rs1435536609 |
729 | H>Y | No |
ClinGen TOPMed |
|
|
rs750572725 CA1392529 |
737 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392532 rs749498716 |
739 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780253532 CA1392531 |
739 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1392533 rs768518911 |
742 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs778895356 CA1392534 |
743 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 744 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748096891 CA1392535 |
744 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA344818332 rs1283089920 |
744 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 750 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344818425 rs1199325974 |
750 | K>T | No |
ClinGen gnomAD |
|
|
rs1245117587 CA344818444 |
751 | I>M | No |
ClinGen gnomAD |
|
|
CA37361340 rs1031574309 |
751 | I>T | No |
ClinGen Ensembl |
|
|
CA1392539 rs370585840 |
752 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344818460 rs1250214322 |
753 | F>I | No |
ClinGen TOPMed |
|
|
rs989613413 CA37361344 |
758 | G>V | No |
ClinGen Ensembl |
|
|
rs770382387 CA1392541 |
762 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392540 rs770382387 COSM1662398 |
762 | G>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs149998746 CA1392543 |
764 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424009131 CA344818660 |
766 | G>E | No |
ClinGen gnomAD |
|
|
rs1290740688 CA344818650 |
766 | G>R | No |
ClinGen TOPMed |
|
|
rs762293357 CA1392545 |
767 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA344818668 rs762293357 |
767 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211682268 CA344818689 |
768 | K>N | No |
ClinGen TOPMed |
|
|
CA344818694 rs1355821397 |
769 | K>* | No |
ClinGen gnomAD |
|
|
rs1442259199 CA344818698 |
769 | K>I | No |
ClinGen gnomAD |
|
|
CA344818729 rs1422029759 |
771 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344818738 rs1370755980 |
772 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA37361377 rs1027475547 |
773 | L>P | No |
ClinGen TOPMed |
|
|
CA1392546 rs768009034 |
774 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1367136282 COSM3943451 CA344818771 |
775 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 776 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202044566 CA1392549 |
777 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202044566 CA1392548 |
777 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268147817 CA344818800 |
778 | S>G | No |
ClinGen TOPMed |
|
|
CA1392550 rs533928877 |
778 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1392551 rs755322754 |
779 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1392552 rs755322754 |
779 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1392554 rs151078062 |
781 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364342362 CA344818859 |
783 | G>R | No |
ClinGen TOPMed |
|
|
CA37361474 rs939251625 |
784 | T>I | No |
ClinGen TOPMed |
|
|
rs746942540 CA1392556 |
786 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA344818911 rs1385699764 |
787 | P>R | No |
ClinGen gnomAD |
|
|
rs1558249145 CA344818905 |
787 | P>S | No |
ClinGen Ensembl |
|
|
rs540094129 CA1392558 |
788 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410416671 CA344818934 |
789 | T>A | No |
ClinGen gnomAD |
|
|
rs1327618534 CA344818936 |
789 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 790 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1392560 rs745515630 |
790 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1392563 rs556906311 |
791 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775135835 CA1392562 |
791 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342099327 CA344818969 |
792 | P>L | No |
ClinGen gnomAD |
|
|
rs1282734099 CA344818961 |
792 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1392565 rs767800739 |
793 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344818995 rs1558249207 |
795 | T>A | No |
ClinGen Ensembl |
|
|
rs773715867 CA1392566 |
795 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1243944985 CA344819012 |
796 | K>R | No |
ClinGen gnomAD |
|
|
rs1201163876 CA344819039 |
798 | T>I | No |
ClinGen TOPMed |
|
|
rs766479624 CA1392568 |
799 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs754034054 CA1392569 |
801 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754034054 CA1392570 |
801 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37361545 rs980039533 |
802 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1392572 COSM3803863 rs765491489 |
802 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 805 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202013188 CA1392574 |
806 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 806 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202013188 CA1392575 |
806 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754600318 | 806 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344819150 rs1243395217 |
807 | D>E | No |
ClinGen gnomAD |
|
|
rs148669072 CA1392577 |
808 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148669072 CA1392576 RCV000964242 |
808 | S>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs371501116 CA37361561 |
810 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1392578 rs371501116 |
810 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745324096 CA1392579 |
811 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344819210 rs1225342420 |
812 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1356756286 CA344819256 |
815 | L>F | No |
ClinGen TOPMed |
|
|
CA1392581 rs200120296 |
815 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA344819274 rs1558249297 |
816 | L>W | No |
ClinGen Ensembl |
No associated diseases with Q9Y597
5 regional properties for Q9Y597
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 18 - 118 | IPR000210 |
| repeat | WD40 repeat | 268 - 304 | IPR001680-1 |
| repeat | WD40 repeat | 410 - 448 | IPR001680-2 |
| repeat | WD40 repeat | 518 - 568 | IPR001680-3 |
| domain | Potassium channel tetramerisation-type BTB domain | 20 - 105 | IPR003131 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGGHCGSFP | AAAAGSGEIV | QLNVGGTRFS | TSRQTLMWIP | DSFFSSLLSG | RISTLRDETG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIFIDRDPAA | FAPILNFLRT | KELDLRGVSI | NVLRHEAEFY | GITPLVRRLL | LCEELERSSC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GSVLFHGYLP | PPGIPSRKIN | NTVRSADSRN | GLNSTEGEAR | GNGTQPVLSG | TGEETVRLGF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVDPRKVLIV | AGHHNWIVAA | YAHFAVCYRI | KESSGWQQVF | TSPYLDWTIE | RVALNAKVVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPHGDKDKMV | AVASESSIIL | WSVQDGGSGS | EIGVFSLGVP | VDALFFIGNQ | LVATSHTGKV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GVWNAVTQHW | QVQDVVPITS | YDTAGSFLLL | GCNNGSIYYI | DMQKFPLRMK | DNDLLVTELY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HDPSNDAITA | LSVYLTPKTS | VSGNWIEIAY | GTSSGAVRVI | VQHPETVGSG | PQLFQTFTVH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RSPVTKIMLS | EKHLVSVCAD | NNHVRTWTVT | RFRGMISTQP | GSTPLASFKI | LSLEETESHG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SYSSGNDIGP | FGERDDQQVF | IQKVVPITNK | LFVRLSSTGK | RICEIQAVDC | TTISSFTVRE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CEGSSRMGSR | PRRYLFTGHT | NGSIQMWDLT | TAMDMVNKSE | DKDVGGPTEE | ELLKLLDQCD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LSTSRCATPN | ISPATSVVQH | SHLRESNSSL | QLQHHDTTHE | AATYGSMRPY | RESPLLARAR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RTESFHSYRD | FQTINLNRNV | ERAVPENGNL | GPIQAEVKGA | TGECNISERK | SPGVEIKSLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ELDSGLEVHK | IAEGFSESKK | RSSEDENENK | IEFRKKGGFE | GGGFLGRKKV | PYLASSPSTS |
| 790 | 800 | 810 | |||
| DGGTDSPGTA | SPSPTKTTPS | PRHKKSDSSG | QEYSL |