Q2NKX8
Gene name |
ERCC6L |
Protein name |
DNA excision repair protein ERCC-6-like |
Names |
ATP-dependent helicase ERCC6-like, PLK1-interacting checkpoint helicase, Tumor antigen BJ-HCC-15 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54821 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
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

2 structures for Q2NKX8
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5JNO | X-ray | 220 A | B | 10-66 | PDB |
AF-Q2NKX8-F1 | Predicted | AlphaFoldDB |
466 variants for Q2NKX8
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs868842692 CA331060277 |
3 | A>E | No |
ClinGen Ensembl |
|
rs1402657839 CA413559495 |
3 | A>P | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 5 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413559366 rs1279095840 |
6 | R>K | No |
ClinGen gnomAD |
|
rs1467210521 CA413559322 |
7 | F>L | No |
ClinGen TOPMed |
|
rs1332305566 CA413559303 |
8 | P>A | No |
ClinGen gnomAD |
|
CA10449736 rs751353457 |
9 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1417449046 CA413559197 |
10 | A>D | No |
ClinGen gnomAD |
|
rs1478299622 CA413559184 |
11 | E>K | No |
ClinGen gnomAD |
|
CA413559142 rs1377036783 |
12 | A>T | No |
ClinGen gnomAD |
|
rs1196405486 CA413559125 |
12 | A>V | No |
ClinGen gnomAD |
|
rs1197607301 CA413559051 |
14 | S>I | No |
ClinGen gnomAD |
|
rs1456206336 CA413559029 |
15 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs764754545 CA10449732 |
18 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1219337943 CA413558883 |
20 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA413589788 rs1441347523 |
23 | R>S | No |
ClinGen gnomAD |
|
rs1275963968 CA413589781 |
24 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1356513448 CA413589776 |
25 | V>L | No |
ClinGen gnomAD |
|
rs781476893 CA10449718 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
CA10449717 rs200564074 |
31 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746922344 CA10449716 |
34 | N>K | No |
ClinGen ExAC gnomAD |
|
CA10449715 CA10449714 rs765734663 |
42 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 48 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1345122062 CA413589608 |
49 | D>G | No |
ClinGen TOPMed |
|
CA10449713 rs551073390 |
50 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA331075222 rs368590575 |
53 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754693469 CA10449711 |
55 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1182070616 CA413589501 |
63 | I>V | No |
ClinGen gnomAD |
|
CA10449707 rs774754864 |
68 | E>K | No |
ClinGen ExAC gnomAD |
|
CA10449706 rs146213399 |
70 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413589372 rs1602437750 |
71 | A>E | No |
ClinGen Ensembl |
|
rs141181241 CA10449705 |
72 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 76 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449704 rs775985483 |
77 | E>V | No |
ClinGen ExAC gnomAD |
|
CA10449703 rs770124131 |
78 | F>C | No |
ClinGen ExAC gnomAD |
|
CA413589210 rs1315497088 |
81 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs148217488 CA331075105 |
89 | Y>C | No |
ClinGen ESP TOPMed |
|
RCV000897740 CA10449701 rs140278755 |
90 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA413589047 rs1256436914 |
92 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs1291464310 CA413589008 |
95 | Q>K | No |
ClinGen gnomAD |
|
rs906824207 CA331075092 |
100 | Q>H | No |
ClinGen Ensembl |
|
CA413588865 rs1184771212 |
104 | I>T | No |
ClinGen TOPMed |
|
CA10449700 rs771164487 |
104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746914949 CA10449699 |
111 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA10449698 rs777548557 |
112 | R>K | No |
ClinGen ExAC |
|
CA331075083 rs901022791 |
119 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs756922577 CA331075080 |
124 | M>V | No |
ClinGen Ensembl |
|
CA10449696 rs190982446 |
126 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA10449695 rs761082445 |
130 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10449693 rs201242720 |
138 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA331075017 rs146896703 |
143 | S>L | No |
ClinGen ESP |
|
rs1261916661 CA413588404 |
147 | H>R | No |
ClinGen gnomAD |
|
CA413588408 rs1430623621 |
147 | H>Y | No |
ClinGen TOPMed |
|
rs1602437589 CA413588312 |
155 | N>T | No |
ClinGen Ensembl |
|
rs779502950 CA10449692 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
CA413588279 rs1222803231 |
158 | N>D | No |
ClinGen gnomAD |
|
rs1271513463 CA413588255 |
159 | T>I | No |
ClinGen gnomAD |
|
CA413588190 rs1231598772 |
164 | F>L | No |
ClinGen gnomAD |
|
CA413588170 rs1318679855 |
165 | I>T | No |
ClinGen gnomAD |
|
rs1212702932 CA413588104 |
170 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1290427733 CA413587998 |
178 | G>D | No |
ClinGen TOPMed |
|
CA10449685 rs759122393 |
179 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1391739315 CA413587987 |
180 | S>T | No |
ClinGen gnomAD |
|
rs777014115 CA10449684 |
181 | K>T | No |
ClinGen ExAC gnomAD |
|
rs760640928 CA10449682 |
183 | E>K | No |
ClinGen ExAC gnomAD |
|
rs918253192 CA331074945 |
184 | R>W | No |
ClinGen Ensembl |
|
rs773897881 CA10449681 |
186 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10449680 rs142549919 RCV000969343 |
189 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778615639 CA10449678 |
190 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA10449679 rs748131332 |
190 | R>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 194 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 205 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413587642 rs1200753032 |
207 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA413587566 rs1250808056 |
212 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs200143714 CA10449672 CA10449673 |
228 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 232 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449671 rs758762458 |
235 | T>N | No |
ClinGen ExAC gnomAD |
|
rs151269287 CA10449667 |
245 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413587159 rs1295908830 |
247 | I>V | No |
ClinGen gnomAD |
|
CA10449665 rs201800132 |
252 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 253 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 258 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413587088 rs1316695947 |
258 | T>S | No |
ClinGen TOPMed |
|
CA10449663 rs374124933 |
260 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 265 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 266 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774298340 CA10449661 |
268 | W>R | No |
ClinGen ExAC gnomAD |
|
CA413587003 rs1602437320 |
270 | L>Q | No |
ClinGen Ensembl |
|
TCGA novel | 277 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1194077779 CA413586947 |
278 | S>A | No |
ClinGen gnomAD |
|
rs1484282759 CA413586930 |
281 | G>E | No |
ClinGen gnomAD |
|
CA413586883 rs1602437292 |
288 | M>V | No |
ClinGen Ensembl |
|
CA10449658 rs775318402 |
302 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413586771 rs1569489976 |
303 | T>N | No |
ClinGen Ensembl |
|
rs1287835827 CA413586760 |
305 | G>E | No |
ClinGen gnomAD |
|
TCGA novel | 306 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1240641997 CA413586736 |
308 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 310 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 312 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1334740118 CA413586685 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA413586607 rs1304432204 |
319 | A>V | No |
ClinGen gnomAD |
|
CA10449657 rs769270474 |
324 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 331 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746565139 CA10449654 COSM1570029 |
333 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs746565139 CA10449653 |
333 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779530243 CA10449652 |
342 | E>G | No |
ClinGen ExAC gnomAD |
|
rs200073614 CA10449651 |
343 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754242682 CA10449650 |
344 | R>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 344 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449648 rs149128529 |
346 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149128529 CA10449649 |
346 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413586262 rs1425825702 |
349 | N>D | No |
ClinGen gnomAD |
|
CA10449647 rs765230986 |
349 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA331074701 rs765230986 |
349 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10449646 rs767450780 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 361 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1184080116 CA413586103 |
363 | R>T | No |
ClinGen TOPMed |
|
TCGA novel | 365 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1469834817 CA413586075 |
365 | N>S | No |
ClinGen TOPMed |
|
TCGA novel | 365 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1216998343 CA413585979 |
372 | R>* | No |
ClinGen gnomAD |
|
COSM1125067 CA413585977 rs1157150843 |
372 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs1006787494 CA331074684 |
373 | L>P | No |
ClinGen Ensembl |
|
rs764001801 CA10449643 |
375 | P>S | No |
ClinGen ExAC gnomAD |
|
CA413585915 rs1159206272 |
376 | L>S | No |
ClinGen gnomAD |
|
rs1569489930 CA413585869 |
378 | E>D | No |
ClinGen Ensembl |
|
CA413585816 rs1258814503 |
382 | R>G | No |
ClinGen gnomAD |
|
TCGA novel | 382 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762887752 CA10449642 |
385 | V>M | No |
ClinGen ExAC gnomAD |
|
CA10449641 rs775077750 |
387 | L>S | No |
ClinGen ExAC gnomAD |
|
CA10449639 rs189810726 |
397 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10449637 rs144123832 |
398 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139313430 COSM195473 CA10449636 |
398 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1334765481 CA413585564 |
402 | A>V | No |
ClinGen TOPMed |
|
CA331074618 rs868768343 |
409 | K>R | No |
ClinGen Ensembl |
|
TCGA novel | 417 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755486370 CA10449634 |
420 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413585293 rs1474275861 |
423 | C>Y | No |
ClinGen gnomAD |
|
rs749819014 CA10449633 |
426 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1261100793 CA413585159 |
431 | S>C | No |
ClinGen TOPMed |
|
TCGA novel | 434 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs865790063 CA331074595 |
435 | G>E | No |
ClinGen Ensembl |
|
CA413585037 rs1211437556 |
438 | G>W | No |
ClinGen gnomAD |
|
rs1569489887 CA413584977 |
441 | S>Y | No |
ClinGen Ensembl |
|
rs756526817 CA10449631 |
443 | D>E | No |
ClinGen ExAC gnomAD |
|
CA413584947 rs1488579280 |
443 | D>H | No |
ClinGen gnomAD |
|
CA10449630 rs750805759 |
449 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA413584779 rs1228769983 |
452 | D>N | No |
ClinGen gnomAD |
|
CA10449628 rs367844894 |
454 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10449629 rs367844894 |
454 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA331074575 rs923238793 |
462 | M>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 466 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449627 rs202048178 |
467 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1325461838 CA413584456 |
469 | L>F | No |
ClinGen gnomAD |
|
CA413584459 rs1325461838 |
469 | L>V | No |
ClinGen gnomAD |
|
CA331074569 rs976090150 |
471 | R>S | No |
ClinGen TOPMed |
|
CA413584405 rs1268887460 |
473 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 476 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413584354 rs1487091722 |
476 | G>R | No |
ClinGen TOPMed |
|
rs1460133986 CA413584310 |
479 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 479 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1425831962 CA413584265 |
483 | S>A | No |
ClinGen TOPMed gnomAD |
|
COSM1125064 rs762834270 CA10449625 |
485 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs933735259 CA331074562 |
492 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA10449623 rs765128241 |
494 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA413584115 rs1252203341 |
497 | K>R | No |
ClinGen gnomAD |
|
CA413584057 rs1258093199 |
501 | F>L | No |
ClinGen gnomAD |
|
rs770702617 CA10449620 |
504 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM195472 CA413584015 rs1339227994 |
505 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1236148995 CA413583944 |
512 | H>Y | No |
ClinGen gnomAD |
|
CA10449619 rs187128885 |
513 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 513 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 513 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 517 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 519 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA331074520 rs150532018 |
521 | N>H | No |
ClinGen ESP |
|
CA10449616 rs749715424 |
524 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1329575694 CA413583795 |
525 | Q>E | No |
ClinGen gnomAD |
|
rs1265759918 CA413583725 |
530 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA413583660 rs1174231068 |
537 | Q>R | No |
ClinGen gnomAD |
|
rs746226184 CA10449613 |
541 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757416133 CA10449611 |
553 | I>S | No |
ClinGen ExAC gnomAD |
|
rs1238414796 CA413583375 |
564 | A>G | No |
ClinGen gnomAD |
|
CA331074485 rs370873689 |
566 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
TCGA novel | 571 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449609 rs777793094 |
571 | Y>H | No |
ClinGen ExAC gnomAD |
|
COSM1125062 CA413583297 rs1423637771 |
572 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs758443175 CA10449608 |
577 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 579 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765208217 CA10449606 |
602 | D>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 604 | L>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs905645046 CA331074460 |
605 | I>T | No |
ClinGen TOPMed |
|
rs1379308095 CA413582857 |
613 | K>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 616 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1334048330 CA413582805 |
617 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA10449601 rs760354023 |
621 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 623 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 624 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 626 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449598 rs201713434 |
629 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs967229543 CA331074411 |
630 | I>V | No |
ClinGen Ensembl |
|
COSM1125061 rs147328766 CA10449596 |
631 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA10449597 rs147328766 |
631 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10449595 rs746378490 |
632 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs914713203 CA331074395 |
634 | Q>H | No |
ClinGen TOPMed |
|
TCGA novel | 641 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 657 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771318389 CA10449593 |
658 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747415869 CA10449592 |
660 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777951082 CA10449591 |
669 | A>V | No |
ClinGen ExAC gnomAD |
|
rs372955235 CA10449590 |
671 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413578975 rs1569489786 |
675 | D>G | No |
ClinGen Ensembl |
|
rs778863624 CA10449588 |
677 | M>T | No |
ClinGen ExAC gnomAD |
|
CA10449587 rs754886880 |
680 | C>R | No |
ClinGen ExAC gnomAD |
|
CA10449586 rs753740022 |
685 | K>R | No |
ClinGen ExAC gnomAD |
|
CA10449584 rs188646020 |
689 | D>N | No |
ClinGen 1000Genomes ExAC |
|
TCGA novel | 690 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs976522853 CA331074351 |
694 | S>Y | No |
ClinGen TOPMed |
|
rs1401840923 CA413578620 |
698 | Q>R | No |
ClinGen gnomAD |
|
CA331074325 CA331074341 rs1011347533 |
700 | R>S | No |
ClinGen Ensembl |
|
CA331074319 rs964737805 |
701 | V>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 702 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs958041304 CA331074298 |
708 | V>D | No |
ClinGen TOPMed gnomAD |
|
rs1317439506 CA413578499 |
708 | V>I | No |
ClinGen gnomAD |
|
rs1474602140 CA413578450 |
711 | E>A | No |
ClinGen gnomAD |
|
rs750289131 CA10449582 COSM1125059 |
711 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA331074283 rs200234671 |
714 | N>D | No |
ClinGen 1000Genomes |
|
CA413578264 rs1245518499 |
719 | M>I | No |
ClinGen TOPMed |
|
rs1310770071 CA413578258 |
720 | E>K | No |
ClinGen TOPMed |
|
rs761435400 CA10449580 |
722 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA10449579 rs773857138 |
723 | R>I | No |
ClinGen ExAC gnomAD |
|
rs865972418 CA331074216 |
724 | T>I | No |
ClinGen TOPMed |
|
CA10449578 rs763537928 |
728 | G>E | No |
ClinGen ExAC gnomAD |
|
CA10449577 rs760051206 |
735 | V>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 742 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 743 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449576 rs777094514 |
750 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA10449575 rs369492714 |
753 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1334249905 CA413577463 |
756 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs45448501 CA10449574 |
759 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10449573 rs773634562 |
762 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA10449572 rs375177556 |
763 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA413577247 rs1243203630 |
764 | Q>L | No |
ClinGen TOPMed |
|
rs1428388180 CA413577143 |
768 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs748332306 CA10449571 |
769 | S>C | No |
ClinGen ExAC gnomAD |
|
rs779001189 CA10449570 |
774 | S>T | No |
ClinGen ExAC gnomAD |
|
CA10449568 rs138539407 |
777 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780115534 CA10449567 |
778 | D>E | No |
ClinGen ExAC gnomAD |
|
rs373087197 CA10449566 |
781 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413576769 rs1420858572 |
784 | G>A | No |
ClinGen gnomAD |
|
CA413576682 rs1186239180 |
788 | D>A | No |
ClinGen gnomAD |
|
rs1419336051 CA413576633 |
790 | S>F | No |
ClinGen TOPMed |
|
rs1158066973 CA413576630 |
791 | S>G | No |
ClinGen TOPMed |
|
rs1454242938 CA413576439 |
798 | T>N | No |
ClinGen gnomAD |
|
rs200118335 CA331074187 |
798 | T>S | No |
ClinGen Ensembl |
|
rs1569489748 CA413576432 |
799 | L>V | No |
ClinGen Ensembl |
|
rs767437755 CA10449564 |
802 | G>R | No |
ClinGen ExAC gnomAD |
|
CA413576334 rs1409547407 |
803 | K>E | No |
ClinGen TOPMed |
|
rs756889450 CA10449563 |
807 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10449562 rs751204906 |
808 | A>T | No |
ClinGen ExAC gnomAD |
|
CA331074162 rs183569692 |
812 | A>T | No |
ClinGen 1000Genomes |
|
rs763850827 CA10449561 |
813 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1212794517 CA413576090 |
815 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs767335608 CA10449560 |
817 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs759241784 CA10449559 |
818 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 823 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368694497 CA10449557 |
827 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1602436157 CA413575821 |
827 | N>T | No |
ClinGen Ensembl |
|
TCGA novel | 833 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 835 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 835 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413575523 rs1353479990 |
837 | A>V | No |
ClinGen gnomAD |
|
CA10449555 rs143780574 |
840 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413575414 rs1408754751 |
842 | A>G | No |
ClinGen gnomAD |
|
TCGA novel | 844 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449554 rs149400438 |
846 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748360100 CA10449553 |
847 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 855 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA331074125 rs1011305166 |
856 | A>T | No |
ClinGen TOPMed |
|
TCGA novel | 857 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780344606 CA10449549 |
861 | P>S | No |
ClinGen ExAC gnomAD |
|
CA413574933 rs1250896050 |
863 | E>A | No |
ClinGen gnomAD |
|
CA413574907 rs1327596330 |
864 | S>T | No |
ClinGen TOPMed |
|
rs377308473 CA10449546 |
866 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10449547 rs745826258 |
866 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1264226223 CA413574809 |
867 | Y>C | No |
ClinGen TOPMed |
|
CA10449543 rs777279256 |
869 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308679803 CA413574727 |
871 | K>N | No |
ClinGen gnomAD |
|
CA413574638 rs1602436027 |
876 | D>H | No |
ClinGen Ensembl |
|
TCGA novel | 879 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764741520 CA10449540 |
882 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 883 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449539 rs761121796 |
884 | L>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 886 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413574385 rs1249347499 |
887 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA413574378 rs1481259015 |
887 | D>V | No |
ClinGen TOPMed |
|
TCGA novel | 889 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449538 rs750959799 |
891 | R>C | No |
ClinGen ExAC gnomAD |
|
CA10449537 rs146534560 |
891 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA331074022 rs923557190 |
894 | N>D | No |
ClinGen TOPMed |
|
rs372744705 CA331074018 |
896 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
CA10449536 rs762060768 |
898 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1174001109 CA413573973 |
901 | I>L | No |
ClinGen TOPMed |
|
CA10449535 rs774834145 |
901 | I>T | No |
ClinGen ExAC gnomAD |
|
CA413573897 rs1249879328 |
904 | E>A | No |
ClinGen gnomAD |
|
CA413573693 rs1356401293 |
911 | N>S | No |
ClinGen TOPMed |
|
CA10449534 rs763268011 |
913 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10449533 rs763268011 |
913 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA331074003 rs75816027 |
914 | I>L | No |
ClinGen Ensembl |
|
rs1486586718 CA413573607 |
915 | I>T | No |
ClinGen gnomAD |
|
CA331073990 rs928229001 |
916 | E>K | No |
ClinGen Ensembl |
|
rs1307730552 CA413573558 |
917 | I>L | No |
ClinGen TOPMed |
|
rs1258157181 CA413573385 |
925 | H>Y | No |
ClinGen gnomAD |
|
rs775667202 CA10449531 |
926 | S>R | No |
ClinGen ExAC gnomAD |
|
CA413573255 rs1569489699 |
931 | A>V | No |
ClinGen Ensembl |
|
CA10449530 rs770028893 |
932 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA10449529 rs745987590 |
934 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000413459 rs1057518449 |
935 | E>missing | No |
ClinVar dbSNP |
|
rs780972657 CA10449528 |
935 | E>D | No |
ClinGen ExAC TOPMed |
|
CA413573200 rs1284362256 |
935 | E>K | No |
ClinGen TOPMed |
|
CA10449527 rs770961426 |
942 | P>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 942 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10449526 rs566814162 |
945 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1357849071 CA413572968 |
949 | Y>C | No |
ClinGen gnomAD |
|
rs777628747 CA10449525 |
949 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1414786443 CA413572953 |
950 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs757988944 CA10449524 |
951 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1009264830 CA331073972 |
955 | L>I | No |
ClinGen Ensembl |
|
CA331073945 rs910523781 |
958 | E>G | No |
ClinGen TOPMed |
|
CA331073968 rs943373271 |
958 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA10449521 rs368349813 |
963 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753436230 CA10449520 |
969 | S>G | No |
ClinGen ExAC gnomAD |
|
CA331073932 rs930752891 |
973 | E>Q | No |
ClinGen TOPMed |
|
rs767894899 CA10449519 |
974 | H>P | No |
ClinGen ExAC gnomAD |
|
CA331073919 rs989591724 |
975 | V>I | No |
ClinGen Ensembl |
|
TCGA novel | 976 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751800190 CA10449517 |
988 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201618175 CA10449516 |
989 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763231109 COSM1644073 CA10449515 |
989 | R>K | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA10449513 rs759679045 |
990 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759679045 CA10449512 |
990 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10449511 rs776838613 |
991 | G>E | No |
ClinGen ExAC gnomAD |
|
CA10449510 rs770709541 |
993 | V>M | No |
ClinGen ExAC gnomAD |
|
CA413572150 rs1298127579 |
999 | L>R | No |
ClinGen gnomAD |
|
CA413572142 rs1383127586 |
1000 | S>N | No |
ClinGen gnomAD |
|
CA10449508 rs771884439 |
1007 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1318784089 CA413572051 |
1007 | D>G | No |
ClinGen gnomAD |
|
rs1368895777 CA413572055 |
1007 | D>N | No |
ClinGen TOPMed |
|
rs747976435 CA10449506 |
1008 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1602435649 CA413572014 |
1010 | P>Q | No |
ClinGen Ensembl |
|
rs1474162780 CA413572020 |
1010 | P>T | No |
ClinGen gnomAD |
|
TCGA novel | 1012 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368082499 CA10449504 |
1012 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748741011 CA10449503 |
1012 | E>V | No |
ClinGen ExAC |
|
rs1029564947 CA331073799 |
1021 | S>N | No |
ClinGen Ensembl |
|
rs1226969333 CA413571824 |
1022 | K>E | No |
ClinGen TOPMed |
|
CA413571793 rs1259477860 |
1024 | R>G | No |
ClinGen gnomAD |
|
TCGA novel | 1027 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1215144132 CA413571736 |
1027 | V>G | No |
ClinGen gnomAD |
|
rs1468681436 CA413571706 |
1029 | D>E | No |
ClinGen gnomAD |
|
rs752142569 COSM1125054 CA10449499 |
1031 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1288859585 CA413571589 |
1035 | D>G | No |
ClinGen TOPMed |
|
CA413571469 rs1253607709 |
1042 | S>N | No |
ClinGen gnomAD |
|
rs746430905 CA331073774 |
1043 | I>V | No |
ClinGen Ensembl |
|
rs764742655 CA10449498 |
1050 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1326183987 CA413571294 |
1053 | F>L | No |
ClinGen gnomAD |
|
CA10449497 rs201813772 |
1055 | S>P | No |
ClinGen ExAC gnomAD |
|
rs201813772 CA413571262 |
1055 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1475055921 CA413571157 |
1061 | A>T | No |
ClinGen TOPMed |
|
rs1187969714 CA413571123 |
1063 | T>A | No |
ClinGen TOPMed |
|
CA10449496 rs753173693 |
1066 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs765552856 CA10449495 |
1068 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1325229102 CA413571008 |
1069 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA413570990 rs1403690944 |
1070 | P>L | No |
ClinGen gnomAD |
|
CA413570975 rs1168419976 |
1071 | P>Q | No |
ClinGen gnomAD |
|
rs1398804632 CA413570988 |
1071 | P>T | No |
ClinGen gnomAD |
|
CA10449494 rs367691365 |
1073 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
CA413570883 rs1388064711 |
1076 | S>T | No |
ClinGen gnomAD |
|
CA413570840 rs776516099 |
1078 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1079 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1082 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1251991529 CA413570758 |
1082 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs766504041 CA10449492 |
1082 | S>T | No |
ClinGen ExAC gnomAD |
|
rs760489524 CA10449491 |
1083 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1602435455 COSM1125051 CA413570664 |
1087 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs969727890 CA413570644 |
1088 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs781535055 CA331073716 |
1089 | S>C | No |
ClinGen Ensembl |
|
CA413570619 rs1434421525 |
1090 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA331073702 rs888194690 |
1091 | R>* | No |
ClinGen Ensembl |
|
CA413570602 rs1054753460 |
1091 | R>I | No |
ClinGen gnomAD |
|
CA331073695 rs1054753460 |
1091 | R>T | No |
ClinGen gnomAD |
|
CA10449489 rs772044139 |
1099 | L>P | No |
ClinGen ExAC |
|
rs769073969 | 1100 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA331073661 rs906802464 |
1100 | I>T | No |
ClinGen TOPMed |
|
CA10449487 rs747924522 |
1102 | M>T | No |
ClinGen ExAC gnomAD |
|
rs772332054 CA10449486 |
1107 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA331073645 rs200436150 |
1110 | M>I | No |
ClinGen 1000Genomes |
|
CA10449485 rs748979456 |
1115 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779379313 CA10449483 |
1116 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140453884 CA10449481 |
1117 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs868101885 CA331073591 |
1118 | S>N | No |
ClinGen Ensembl |
|
TCGA novel | 1121 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1121 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778413231 CA10449479 |
1122 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA331073587 rs746653103 |
1123 | P>S | No |
ClinGen Ensembl |
|
TCGA novel | 1123 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1435115337 CA413569958 |
1124 | E>K | No |
ClinGen gnomAD |
|
CA10449478 rs142136151 |
1128 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780485401 | 1129 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1232907765 CA413569814 |
1131 | V>E | No |
ClinGen gnomAD |
|
CA10449476 rs374591932 |
1131 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
rs754122902 CA10449473 |
1137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1216228000 CA413569651 |
1138 | A>T | No |
ClinGen gnomAD |
|
CA413569458 rs1337324202 |
1144 | E>G | No |
ClinGen gnomAD |
|
rs144948480 CA331073574 |
1144 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
TCGA novel | 1146 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413569177 rs78660817 |
1148 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1356985455 CA413569176 |
1148 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs78660817 CA10449469 COSM1469293 |
1148 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs774071692 CA10449467 |
1151 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1310697871 CA413569117 |
1151 | L>V | No |
ClinGen gnomAD |
|
rs768514070 CA10449466 |
1157 | S>F | No |
ClinGen ExAC gnomAD |
|
rs139547199 CA10449465 |
1159 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775189735 CA10449464 |
1161 | M>T | No |
ClinGen ExAC gnomAD |
|
CA10449463 rs769393229 |
1165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1569489515 CA413568709 |
1166 | S>R | No |
ClinGen Ensembl |
|
rs745382389 CA10449462 |
1169 | A>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1171 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1157427084 CA413568583 |
1171 | E>K | No |
ClinGen gnomAD |
|
rs780855497 CA10449461 |
1171 | E>V | No |
ClinGen ExAC gnomAD |
|
CA413568520 rs1279907762 |
1172 | T>I | No |
ClinGen TOPMed |
|
rs201603911 CA10449460 |
1176 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413568224 rs1190654281 |
1183 | E>Q | No |
ClinGen gnomAD |
|
CA10449458 rs376875621 |
1184 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413567928 rs1237211298 |
1190 | Q>* | No |
ClinGen gnomAD |
|
CA413567869 rs1208499371 |
1191 | D>E | No |
ClinGen gnomAD |
|
CA413567815 rs1226349013 |
1193 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1285235191 CA413567737 |
1196 | A>G | No |
ClinGen gnomAD |
|
CA413567671 rs1264861463 |
1199 | D>N | No |
ClinGen TOPMed |
|
rs1204832578 CA413567648 |
1199 | D>V | No |
ClinGen gnomAD |
|
CA413567544 rs1354777511 |
1203 | L>F | No |
ClinGen gnomAD |
|
CA10449452 rs750433514 |
1204 | V>I | No |
ClinGen ExAC gnomAD |
|
CA10449453 rs750433514 |
1204 | V>L | No |
ClinGen ExAC gnomAD |
|
CA413567502 rs1345632872 |
1205 | K>R | No |
ClinGen gnomAD |
|
rs1030720831 CA331073436 |
1206 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs140225715 CA10449451 |
1206 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10449450 rs761685830 |
1209 | E>* | No |
ClinGen ExAC gnomAD |
|
rs1413704568 CA413567303 |
1212 | E>G | No |
ClinGen gnomAD |
|
CA413567202 rs1243123342 |
1216 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA10449446 rs763990925 |
1224 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA331073410 rs150894750 |
1226 | A>V | No |
ClinGen ESP gnomAD |
|
CA413566981 rs1171451352 |
1227 | L>I | No |
ClinGen TOPMed |
|
CA413566943 rs1214403206 |
1229 | I>L | No |
ClinGen gnomAD |
|
TCGA novel | 1229 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413566946 rs1214403206 |
1229 | I>V | No |
ClinGen gnomAD |
|
TCGA novel | 1232 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA331073396 rs1015466241 |
1233 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1015466241 CA413566866 |
1233 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs749928252 CA10449445 |
1234 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1349508495 CA413566821 |
1235 | E>* | No |
ClinGen TOPMed |
|
CA413566756 rs1407712272 |
1238 | L>F | No |
ClinGen TOPMed |
|
CA413566748 rs1284988704 |
1238 | L>R | No |
ClinGen TOPMed |
|
CA10449444 rs775218566 |
1240 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769425306 CA10449443 |
1242 | S>R | No |
ClinGen ExAC gnomAD |
|
CA10449442 rs759276710 |
1248 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1343048635 | 1251 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q2NKX8
5 regional properties for Q2NKX8
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 13 - 268 | IPR000719 |
domain | NAF domain | 307 - 366 | IPR004041 |
active_site | Serine/threonine-protein kinase, active site | 132 - 144 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 19 - 42 | IPR017441 |
domain | NAF/FISL domain | 305 - 329 | IPR018451 |
Functions
Description | ||
---|---|---|
EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
6 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
DNA translocase activity | Generation of movement along a single- or double-stranded DNA molecule, driven by ATP hydrolysis. |
2 GO annotations of biological process
Name | Definition |
---|---|
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
4 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A3KMX0 | ERCC6L2 | DNA excision repair protein ERCC-6-like 2 | Bos taurus (Bovine) | PR |
Q03468 | ERCC6 | DNA excision repair protein ERCC-6 | Homo sapiens (Human) | EV |
F8VPZ5 | Ercc6 | DNA excision repair protein ERCC-6 | Mus musculus (Mouse) | SS |
Q9ZV43 | CHR8 | Protein CHROMATIN REMODELING 8 | Arabidopsis thaliana (Mouse-ear cress) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MEASRRFPEA | EALSPEQAAH | YLRYVKEAKE | ATKNGDLEEA | FKLFNLAKDI | FPNEKVLSRI |
70 | 80 | 90 | 100 | 110 | 120 |
QKIQEALEEL | AEQGDDEFTD | VCNSGLLLYR | ELHNQLFEHQ | KEGIAFLYSL | YRDGRKGGIL |
130 | 140 | 150 | 160 | 170 | 180 |
ADDMGLGKTV | QIIAFLSGMF | DASLVNHVLL | IMPTNLINTW | VKEFIKWTPG | MRVKTFHGPS |
190 | 200 | 210 | 220 | 230 | 240 |
KDERTRNLNR | IQQRNGVIIT | TYQMLINNWQ | QLSSFRGQEF | VWDYVILDEA | HKIKTSSTKS |
250 | 260 | 270 | 280 | 290 | 300 |
AICARAIPAS | NRLLLTGTPI | QNNLQELWSL | FDFACQGSLL | GTLKTFKMEY | ENPITRAREK |
310 | 320 | 330 | 340 | 350 | 360 |
DATPGEKALG | FKISENLMAI | IKPYFLRRTK | EDVQKKKSSN | PEARLNEKNP | DVDAICEMPS |
370 | 380 | 390 | 400 | 410 | 420 |
LSRKNDLIIW | IRLVPLQEEI | YRKFVSLDHI | KELLMETRSP | LAELGVLKKL | CDHPRLLSAR |
430 | 440 | 450 | 460 | 470 | 480 |
ACCLLNLGTF | SAQDGNEGED | SPDVDHIDQV | TDDTLMEESG | KMIFLMDLLK | RLRDEGHQTL |
490 | 500 | 510 | 520 | 530 | 540 |
VFSQSRQILN | IIERLLKNRH | FKTLRIDGTV | THLLEREKRI | NLFQQNKDYS | VFLLTTQVGG |
550 | 560 | 570 | 580 | 590 | 600 |
VGLTLTAATR | VVIFDPSWNP | ATDAQAVDRV | YRIGQKENVV | VYRLITCGTV | EEKIYRRQVF |
610 | 620 | 630 | 640 | 650 | 660 |
KDSLIRQTTG | EKKNPFRYFS | KQELRELFTI | EDLQNSVTQL | QLQSLHAAQR | KSDIKLDEHI |
670 | 680 | 690 | 700 | 710 | 720 |
AYLQSLGIAG | ISDHDLMYTC | DLSVKEELDV | VEESHYIQQR | VQKAQFLVEF | ESQNKEFLME |
730 | 740 | 750 | 760 | 770 | 780 |
QQRTRNEGAW | LREPVFPSST | KKKCPKLNKP | QPQPSPLLST | HHTQEEDISS | KMASVVIDDL |
790 | 800 | 810 | 820 | 830 | 840 |
PKEGEKQDLS | SIKVNVTTLQ | DGKGTGSADS | IATLPKGFGS | VEELCTNSSL | GMEKSFATKN |
850 | 860 | 870 | 880 | 890 | 900 |
EAVQKETLQE | GPKQEALQED | PLESFNYVLS | KSTKADIGPN | LDQLKDDEIL | RHCNPWPIIS |
910 | 920 | 930 | 940 | 950 | 960 |
ITNESQNAES | NVSIIEIADD | LSASHSALQD | AQASEAKLEE | EPSASSPQYA | CDFNLFLEDS |
970 | 980 | 990 | 1000 | 1010 | 1020 |
ADNRQNFSSQ | SLEHVEKENS | LCGSAPNSRA | GFVHSKTCLS | WEFSEKDDEP | EEVVVKAKIR |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
SKARRIVSDG | EDEDDSFKDT | SSINPFNTSL | FQFSSVKQFD | ASTPKNDISP | PGRFFSSQIP |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
SSVNKSMNSR | RSLASRRSLI | NMVLDHVEDM | EERLDDSSEA | KGPEDYPEEG | VEESSGEASK |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
YTEEDPSGET | LSSENKSSWL | MTSKPSALAQ | ETSLGAPEPL | SGEQLVGSPQ | DKAAEATNDY |
1210 | 1220 | 1230 | 1240 | ||
ETLVKRGKEL | KECGKIQEAL | NCLVKALDIK | SADPEVMLLT | LSLYKQLNNN |