P53671
Gene name |
LIMK2 |
Protein name |
LIM domain kinase 2 |
Names |
LIMK-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3985 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
468-511 (Activation loop from InterPro)
Target domain |
331-608 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

7 structures for P53671
473 variants for P53671
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1486913765 CA411238155 |
2 | S>C | No |
ClinGen gnomAD |
|
CA10190229 rs780556610 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 5 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA323267562 rs969888787 |
5 | A>T | No |
ClinGen TOPMed |
|
rs1167570802 CA411238196 |
5 | A>V | No |
ClinGen gnomAD |
|
rs749303634 CA10190230 |
6 | G>S | No |
ClinGen ExAC gnomAD |
|
rs148900540 CA10190250 |
8 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411232931 rs1413964832 |
9 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1413964832 CA411232926 |
9 | V>D | No |
ClinGen TOPMed gnomAD |
|
rs752846979 CA10190251 |
11 | R>G | No |
ClinGen ExAC gnomAD |
|
CA323243183 rs1024462531 |
12 | C>R | No |
ClinGen TOPMed gnomAD |
|
CA411233059 rs1222341612 |
13 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1222341612 CA411233052 |
13 | P>Q | No |
ClinGen TOPMed gnomAD |
|
CA10190252 rs758586443 |
16 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411233135 rs758586443 |
16 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190253 rs777860928 |
17 | D>H | No |
ClinGen ExAC gnomAD |
|
CA10190254 rs746761018 |
18 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs770871986 CA10190255 |
19 | I>F | No |
ClinGen ExAC gnomAD |
|
CA10190256 rs143570231 |
22 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10190257 rs367645806 |
23 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411233300 rs1243809616 |
24 | I>L | No |
ClinGen TOPMed |
|
rs1358858195 CA411233306 |
24 | I>R | No |
ClinGen TOPMed |
|
rs1433136921 CA411233318 |
25 | W>* | No |
ClinGen TOPMed |
|
CA10190258 rs769184921 |
25 | W>L | No |
ClinGen ExAC gnomAD |
|
rs1018365552 CA323243227 |
25 | W>R | No |
ClinGen TOPMed gnomAD |
|
CA411233338 rs1175386769 |
27 | R>T | No |
ClinGen gnomAD |
|
rs762386096 CA10190260 |
29 | V>A | No |
ClinGen ExAC gnomAD |
|
CA411233366 rs1373592440 |
29 | V>F | No |
ClinGen gnomAD |
|
CA411233362 rs1373592440 |
29 | V>I | No |
ClinGen gnomAD |
|
CA411233379 rs1329281834 |
30 | N>H | No |
ClinGen gnomAD |
|
CA10190261 rs768290994 |
30 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411233407 COSM282428 rs1279238051 |
31 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1367946333 CA411233432 |
32 | T>A | No |
ClinGen TOPMed |
|
COSM1256494 CA411233467 rs995881074 |
33 | W>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs995881074 CA323243281 |
33 | W>C | No |
ClinGen gnomAD |
|
CA411233461 rs1410432969 |
33 | W>S | No |
ClinGen gnomAD |
|
CA411233482 rs1236620924 |
34 | H>L | No |
ClinGen gnomAD |
|
rs5997917 CA10190263 VAR_034069 |
35 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1390264677 CA411233527 |
36 | S>C | No |
ClinGen TOPMed |
|
CA411233545 rs1436474228 |
37 | C>* | No |
ClinGen gnomAD |
|
CA10190265 rs754336982 |
37 | C>R | No |
ClinGen ExAC gnomAD |
|
CA411233547 rs1436474228 |
37 | C>W | No |
ClinGen gnomAD |
|
rs1201980587 CA411233554 |
38 | F>V | No |
ClinGen gnomAD |
|
CA10190267 rs765675081 |
39 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs760091365 CA10190266 |
39 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759302784 CA10190349 |
44 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1349601025 CA411241440 |
45 | D>G | No |
ClinGen TOPMed |
|
VAR_042249 CA10190350 rs35923988 |
45 | D>N | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 47 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10190351 rs775402074 |
48 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1234109907 CA411241511 |
48 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA323262383 rs1053089955 |
49 | N>D | No |
ClinGen TOPMed |
|
rs1447323172 CA411241544 |
49 | N>K | No |
ClinGen TOPMed |
|
rs1312981583 CA411241529 |
49 | N>S | No |
ClinGen TOPMed |
|
rs1176957466 CA411241639 |
52 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA10190353 rs764106716 |
53 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA411241693 rs1220938866 |
54 | K>R | No |
ClinGen gnomAD |
|
CA10190354 rs375786681 |
56 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10190355 rs756826059 |
58 | L>F | No |
ClinGen ExAC gnomAD |
|
CA10190357 rs750152301 |
61 | P>A | No |
ClinGen ExAC gnomAD |
|
rs748859205 CA323262423 |
61 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748859205 CA10190358 |
61 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411241852 rs1188171176 |
62 | K>N | No |
ClinGen gnomAD |
|
CA411241845 rs1601430033 |
62 | K>R | No |
ClinGen Ensembl |
|
rs1415513799 CA411241886 |
64 | Y>C | No |
ClinGen gnomAD |
|
rs1045529957 CA323262439 |
65 | W>* | No |
ClinGen TOPMed |
|
CA10190359 rs554904269 |
65 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1403039920 CA411241895 |
65 | W>R | No |
ClinGen gnomAD |
|
rs1475434553 CA411241916 |
66 | G>E | No |
ClinGen TOPMed |
|
CA411241913 rs1345334233 |
66 | G>W | No |
ClinGen gnomAD |
|
rs748533181 CA10190360 |
67 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA323262444 rs905607840 |
67 | K>T | No |
ClinGen TOPMed |
|
rs758762286 CA10190361 |
69 | G>R | No |
ClinGen ExAC gnomAD |
|
CA10190362 rs778373418 |
73 | H>N | No |
ClinGen ExAC gnomAD |
|
CA411242063 rs1568996154 |
74 | G>E | No |
ClinGen Ensembl |
|
rs368850347 CA10190363 |
74 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
CA411242112 rs771084358 |
78 | L>V | No |
ClinGen ExAC |
|
rs776696149 CA10190365 |
80 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228021091 CA411242200 |
83 | F>S | No |
ClinGen gnomAD |
|
CA323262839 rs74759932 |
86 | A>S | No |
ClinGen Ensembl |
|
rs775710676 CA10190387 |
88 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA10190388 rs370469164 |
90 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1288179824 CA411242977 |
93 | P>R | No |
ClinGen gnomAD |
|
CA323262844 rs547547048 |
95 | C>Y | No |
ClinGen Ensembl |
|
TCGA novel | 96 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10190391 rs761864296 |
99 | M>V | No |
ClinGen ExAC gnomAD |
|
rs188450615 CA10190392 |
103 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 104 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772794184 CA10190393 |
105 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 107 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA411243416 rs1273600757 |
108 | G>R | No |
ClinGen gnomAD |
|
rs115033601 CA10190396 |
111 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs202149781 CA323262878 |
116 | H>L | No |
ClinGen Ensembl |
|
CA10190399 rs752006815 |
116 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1237000645 CA411243698 |
118 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1601430757 CA411243689 |
118 | T>P | No |
ClinGen Ensembl |
|
rs1237000645 CA411243695 |
118 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA411243720 rs1200852580 |
119 | L>H | No |
ClinGen gnomAD |
|
rs759301457 CA10190416 |
122 | G>E | No |
ClinGen ExAC gnomAD |
|
CA10190415 rs370473616 |
122 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10190417 rs764802452 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
CA411244008 rs1374387813 |
124 | C>G | No |
ClinGen TOPMed |
|
CA10190419 rs116294833 |
126 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767971147 CA10190420 |
128 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1300645787 CA411244144 |
128 | V>M | No |
ClinGen gnomAD |
|
CA411244166 rs1399817504 |
129 | V>M | No |
ClinGen gnomAD |
|
CA10190422 rs750966369 |
131 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190421 rs750966369 |
131 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA323263354 rs377628882 |
133 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs971814417 CA323263348 |
133 | M>V | No |
ClinGen TOPMed |
|
rs923107832 CA323263365 |
142 | V>I | No |
ClinGen TOPMed |
|
rs879665211 CA323263394 |
143 | Q>E | No |
ClinGen Ensembl |
|
CA411244416 rs1340186526 |
143 | Q>R | No |
ClinGen TOPMed |
|
rs753998840 CA10190425 |
148 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1601431514 CA411244451 |
148 | Y>S | No |
ClinGen Ensembl |
|
rs1487146641 CA411244459 |
149 | S>C | No |
ClinGen gnomAD |
|
rs555588151 CA10190426 COSM293551 |
151 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs1444340607 CA411244475 |
152 | L>P | No |
ClinGen gnomAD |
|
CA10190428 rs747938973 |
153 | I>M | No |
ClinGen ExAC gnomAD |
|
CA411244487 rs1568996807 |
154 | S>Y | No |
ClinGen Ensembl |
|
rs375268249 CA323263448 |
155 | M>I | No |
ClinGen Ensembl |
|
rs777833409 CA10190430 |
156 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 157 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA411244513 rs1217051326 |
158 | T>S | No |
ClinGen TOPMed |
|
CA10190432 rs770561524 |
161 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190435 rs371378655 |
163 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745383774 CA10190434 |
163 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190436 rs370423192 |
166 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142840455 CA10190438 |
167 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs761234126 CA10190440 |
169 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 170 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 171 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1568996866 CA411244606 |
173 | C>Y | No |
ClinGen Ensembl |
|
rs1011743787 CA323263516 |
174 | S>F | No |
ClinGen Ensembl |
|
CA411244610 rs1256338338 |
174 | S>P | No |
ClinGen gnomAD |
|
CA10190443 rs755048324 |
175 | N>S | No |
ClinGen ExAC gnomAD |
|
CA411244627 rs765469850 |
176 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1246012090 CA411244625 |
176 | Y>C | No |
ClinGen TOPMed |
|
rs752914428 CA10190445 |
177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1260143570 CA411244639 |
178 | T>I | No |
ClinGen TOPMed |
|
CA10190446 rs758256959 |
182 | V>M | No |
ClinGen ExAC TOPMed |
|
rs746806038 CA10190449 |
184 | E>Q | No |
ClinGen ExAC |
|
CA10190458 rs761037866 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773495668 CA10190457 |
187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1166087607 CA411245612 |
188 | M>I | No |
ClinGen TOPMed |
|
CA411245673 rs1256208548 |
191 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1223155092 CA411245724 |
194 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 195 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs5997927 CA411245739 |
196 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371699959 CA10190461 |
197 | A>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs371699959 CA10190462 |
197 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
CA323265148 rs200565424 |
197 | A>V | No |
ClinGen Ensembl |
|
CA10190463 rs752962006 |
199 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs200312431 CA10190464 |
203 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1196754 COSM1196753 rs200312431 CA10190465 |
203 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs751350349 CA10190466 COSM1256493 COSM1256492 |
203 | R>H | lung Variant assessed as Somatic; 0.0 impact. oesophagus central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs757149319 CA10190467 |
208 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376569162 CA323265189 |
211 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs369493707 CA10190469 |
212 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 212 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10190470 rs34930775 VAR_042250 |
213 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779494391 CA10190471 |
213 | R>H | No |
ClinGen ExAC gnomAD |
|
CA10190472 rs779494391 |
213 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1275994563 CA411246017 |
214 | T>A | No |
ClinGen TOPMed |
|
CA411246024 rs1235770219 |
214 | T>I | No |
ClinGen TOPMed |
|
rs768236818 COSM229389 CA10190473 |
216 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs768236818 CA411246036 |
216 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs115204987 CA411246038 |
216 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10190474 rs115204987 |
216 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs115736350 CA10190476 |
218 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10190478 rs760029773 |
219 | E>K | No |
ClinGen ExAC gnomAD |
|
CA411246275 rs1601434065 |
220 | V>G | No |
ClinGen Ensembl |
|
rs1489439369 CA411246269 |
220 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs115240632 CA323265464 |
221 | E>K | No |
ClinGen 1000Genomes |
|
CA10190495 rs746258617 |
222 | D>E | No |
ClinGen ExAC gnomAD |
|
CA10190496 rs770151744 |
223 | A>S | No |
ClinGen ExAC TOPMed |
|
rs776172043 CA10190497 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
CA323265472 rs968035921 |
225 | S>I | No |
ClinGen TOPMed |
|
rs1474431245 CA411246401 |
226 | Q>H | No |
ClinGen TOPMed |
|
rs575869944 CA411246416 |
227 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs575869944 CA10190498 COSM1153989 |
227 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs575869944 CA411246414 |
227 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1239899737 CA411246467 |
230 | T>S | No |
ClinGen TOPMed |
|
rs1162777467 CA411246504 |
232 | Q>H | No |
ClinGen gnomAD |
|
rs1180888920 CA411246532 |
234 | L>V | No |
ClinGen Ensembl |
|
rs774700203 CA10190500 |
237 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1601434144 CA411246607 |
238 | D>A | No |
ClinGen Ensembl |
|
rs762005629 CA10190501 |
239 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA10190503 rs370089296 |
240 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370089296 CA10190504 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411246649 rs1568997950 |
241 | S>F | No |
ClinGen Ensembl |
|
rs899634625 CA323265559 |
241 | S>P | No |
ClinGen gnomAD |
|
TCGA novel | 242 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10190507 rs200731336 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs571170200 CA10190508 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs148743159 CA323265604 |
247 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs887228775 CA411246760 |
248 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs887228775 COSM1153990 CA323265618 |
248 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs777504070 CA10190511 |
248 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs533636256 CA323265627 |
249 | L>P | No |
ClinGen 1000Genomes |
|
rs756541241 CA10190513 |
250 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1481955268 CA411246781 |
250 | E>K | No |
ClinGen gnomAD |
|
CA411246807 rs1441432345 |
251 | A>G | No |
ClinGen gnomAD |
|
rs1238326749 CA411246801 |
251 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs749866123 CA411246817 |
252 | R>P | No |
ClinGen ExAC gnomAD |
|
CA10190515 rs749866123 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs201919044 CA10190514 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411246841 rs774503661 |
254 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774503661 CA10190517 |
254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs553589149 CA10190518 |
254 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 258 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA411246926 rs1332125123 |
258 | Q>R | No |
ClinGen gnomAD |
|
CA10190520 rs773511360 |
259 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411246942 rs1468542716 |
259 | N>S | No |
ClinGen TOPMed |
|
rs1368662581 CA411246970 |
261 | G>E | No |
ClinGen gnomAD |
|
CA411246967 rs1309205779 |
261 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA411246976 rs766224494 |
262 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190522 rs766224494 |
262 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411246992 rs776548315 |
264 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140409562 CA10190524 |
265 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1294813824 CA411247056 |
268 | T>I | No |
ClinGen TOPMed |
|
rs1568998089 CA411247047 |
268 | T>S | No |
ClinGen Ensembl |
|
CA10190525 rs765174488 |
271 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411247104 rs765174488 |
271 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190526 rs752101247 |
272 | K>R | No |
ClinGen ExAC gnomAD |
|
CA411247158 rs1478202225 COSM1213402 COSM1213401 |
273 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA411247177 rs1568998112 |
274 | N>T | No |
ClinGen Ensembl |
|
rs763622489 CA10190528 |
275 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751273863 CA10190529 |
277 | G>E | No |
ClinGen ExAC gnomAD |
|
CA323265720 rs992327983 |
277 | G>R | No |
ClinGen Ensembl |
|
rs1439030461 CA411247306 |
280 | R>K | No |
ClinGen TOPMed |
|
rs749671783 CA10190532 |
281 | R>K | No |
ClinGen ExAC gnomAD |
|
COSM1153992 rs755482329 CA10190533 |
282 | R>C | endometrium Variant assessed as Somatic; 9.702e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA323265732 rs544622991 |
282 | R>H | No |
ClinGen gnomAD |
|
rs1046954174 CA323265735 |
283 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
COSM1153993 rs777847145 CA10190554 |
286 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs370892426 COSM1592933 CA10190555 COSM1033425 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA323270882 rs777847145 |
286 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411249394 rs1356855924 |
287 | S>N | No |
ClinGen Ensembl |
|
CA411249408 rs1158484065 |
289 | S>G | No |
ClinGen TOPMed |
|
CA10190556 rs771093451 |
290 | I>N | No |
ClinGen ExAC gnomAD |
|
rs981186393 CA323270893 |
291 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs201035171 CA323270902 |
293 | S>P | No |
ClinGen Ensembl |
|
CA411249443 rs745634132 |
294 | P>L | No |
ClinGen ExAC gnomAD |
|
CA10190558 rs745634132 |
294 | P>R | No |
ClinGen ExAC gnomAD |
|
CA411249449 rs1182112845 |
295 | G>A | No |
ClinGen TOPMed |
|
rs1311412340 CA411249451 |
296 | P>A | No |
ClinGen gnomAD |
|
CA10190560 VAR_042251 rs34875793 |
296 | P>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA411249459 rs1317231624 |
297 | S>T | No |
ClinGen gnomAD |
|
CA411249468 rs1207465844 |
298 | S>F | No |
ClinGen TOPMed |
|
CA323270914 rs200526623 |
299 | P>T | No |
ClinGen 1000Genomes |
|
CA411249488 rs1259559279 |
301 | E>D | No |
ClinGen TOPMed |
|
rs763014809 CA10190561 |
302 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411249513 rs1449599007 |
306 | S>C | No |
ClinGen gnomAD |
|
CA10190562 rs768481780 |
307 | R>C | No |
ClinGen ExAC gnomAD |
|
rs149963749 CA10190563 |
307 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1240836662 CA411249525 |
308 | D>N | No |
ClinGen gnomAD |
|
rs769771373 CA323270924 |
311 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA411249550 rs1264748302 |
311 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA411249555 rs1568999613 |
312 | S>P | No |
ClinGen Ensembl |
|
rs759969796 CA10190567 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
COSM1714285 rs765703194 COSM1714284 CA411249579 |
316 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs765703194 CA10190568 |
316 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190569 rs374529513 |
316 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10190570 rs533618507 |
317 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751598902 CA10190572 |
318 | S>T | No |
ClinGen ExAC gnomAD |
|
rs757369218 CA10190573 |
319 | S>G | No |
ClinGen ExAC gnomAD |
|
CA10190574 rs781371685 |
320 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781371685 CA411249604 |
320 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190575 rs746144967 |
321 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1267229874 CA411249623 |
323 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA10190576 rs769469177 |
324 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA10190577 rs779831503 |
324 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA411249637 rs1447360917 |
325 | I>F | No |
ClinGen gnomAD |
|
rs142176216 CA323270960 |
325 | I>N | No |
ClinGen ESP TOPMed gnomAD |
|
CA411249650 rs1238079205 COSM1415824 COSM1415825 |
327 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
COSM1415822 rs749049788 COSM1415823 CA10190578 |
327 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs145908769 CA10190579 |
328 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411249690 rs1347395200 |
333 | H>R | No |
ClinGen gnomAD |
|
CA10190580 rs187649083 |
335 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771753332 CA10190582 |
338 | G>A | No |
ClinGen ExAC gnomAD |
|
CA323270975 rs200133582 |
338 | G>R | No |
ClinGen 1000Genomes |
|
CA411249726 rs1236896560 |
339 | K>R | No |
ClinGen gnomAD |
|
CA411249740 rs1419060906 |
341 | F>S | No |
ClinGen TOPMed gnomAD |
|
CA411249777 rs1342938634 |
346 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1157827472 CA411249775 |
346 | I>T | No |
ClinGen gnomAD |
|
rs201466946 COSM1153995 CA10190583 |
346 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1477976906 CA411249799 |
348 | V>M | No |
ClinGen gnomAD |
|
CA411249837 rs749067206 |
353 | T>K | No |
ClinGen ExAC gnomAD |
|
rs749067206 CA10190596 |
353 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA323271430 rs970077897 |
355 | K>I | No |
ClinGen Ensembl |
|
CA411249859 rs1403014622 |
357 | M>L | No |
ClinGen gnomAD |
|
rs114127458 COSM168694 COSM1592932 CA10190600 |
364 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA10190601 rs772143318 |
364 | R>L | No |
ClinGen ExAC gnomAD |
|
rs772143318 CA411249912 |
364 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs138769386 CA10190602 |
365 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs928612661 CA323271454 |
366 | D>E | No |
ClinGen Ensembl |
|
rs1341351770 CA411249928 |
367 | E>K | No |
ClinGen gnomAD |
|
CA411249969 rs1314746294 |
372 | T>I | No |
ClinGen TOPMed |
|
CA411249998 rs1601439108 |
376 | E>D | No |
ClinGen Ensembl |
|
CA411251036 rs1202218591 |
377 | V>L | No |
ClinGen gnomAD |
|
CA10190622 rs373258619 |
380 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
CA411251115 rs1258591161 |
381 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA323271740 rs2229874 VAR_050149 |
381 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10190623 rs2229874 |
381 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777892659 CA10190624 |
382 | S>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 384 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746497960 CA10190625 |
386 | P>S | No |
ClinGen ExAC gnomAD |
|
rs376760049 CA10190626 |
387 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1418677021 CA411251225 |
389 | L>P | No |
ClinGen TOPMed |
|
CA411251253 rs1402237296 |
392 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs776335007 CA10190627 |
392 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411251312 rs1304630427 |
397 | K>R | No |
ClinGen gnomAD |
|
CA411251378 rs1452488319 |
402 | N>Y | No |
ClinGen TOPMed gnomAD |
|
rs1379496757 CA411251441 |
406 | E>D | No |
ClinGen gnomAD |
|
rs1315924941 CA411251500 |
410 | G>E | No |
ClinGen gnomAD |
|
rs762187095 CA10190632 |
410 | G>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 411 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA323271789 rs890335349 |
411 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA10190633 rs767968950 |
411 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411251517 rs1269917703 |
412 | T>S | No |
ClinGen TOPMed |
|
CA411251532 rs1459612817 |
413 | L>P | No |
ClinGen gnomAD |
|
CA411251538 rs1320349775 |
414 | K>E | No |
ClinGen TOPMed |
|
rs1215604794 CA411251580 |
416 | F>C | No |
ClinGen TOPMed |
|
CA411251572 rs1178302472 |
416 | F>L | No |
ClinGen Ensembl |
|
CA411251589 rs1238726323 |
417 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
VAR_042252 rs35422808 CA10190636 |
418 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147975203 CA10190637 COSM1033432 COSM1592931 |
418 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA10190638 rs759621133 |
419 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411251608 rs1304652355 |
419 | S>R | No |
ClinGen TOPMed |
|
CA10190639 rs759621133 |
419 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411251626 rs752503455 |
420 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752503455 CA10190640 |
420 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411251701 rs141613754 |
421 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141613754 CA10190652 |
421 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146397913 CA10190653 |
422 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
CA411251717 rs1177359333 |
422 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA411251744 rs1311218047 |
424 | P>S | No |
ClinGen TOPMed |
|
CA411251776 rs1421798320 |
426 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1408659463 CA411251798 |
427 | Q>L | No |
ClinGen gnomAD |
|
rs1408659463 CA411251799 |
427 | Q>R | No |
ClinGen gnomAD |
|
rs1328808591 CA411251802 |
428 | K>Q | No |
ClinGen gnomAD |
|
rs753018095 CA10190657 |
428 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762828667 CA10190658 |
430 | R>M | No |
ClinGen ExAC gnomAD |
|
rs764047994 CA10190659 |
430 | R>S | No |
ClinGen ExAC gnomAD |
|
CA10190661 rs138454239 |
436 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1453240789 CA411251924 |
438 | G>R | No |
ClinGen TOPMed |
|
CA323273334 rs989742133 |
441 | Y>C | No |
ClinGen TOPMed |
|
rs958250426 CA323273329 |
441 | Y>H | No |
ClinGen TOPMed |
|
CA411252421 rs1192523012 |
442 | L>F | No |
ClinGen gnomAD |
|
rs755603688 CA10190681 |
442 | L>V | No |
ClinGen ExAC gnomAD |
|
CA10190682 rs765937785 |
444 | S>P | No |
ClinGen ExAC gnomAD |
|
rs753347553 COSM726611 CA10190683 COSM1149432 |
445 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA323273352 rs904459217 |
446 | C>R | No |
ClinGen TOPMed gnomAD |
|
rs778661802 CA10190685 |
450 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA10190684 rs530553008 |
450 | R>W | No |
ClinGen ExAC gnomAD |
|
CA323273362 rs368377617 |
451 | D>H | No |
ClinGen ESP |
|
rs1398631355 CA411252573 |
454 | S>L | No |
ClinGen gnomAD |
|
rs1438692567 CA411252591 |
455 | H>Q | No |
ClinGen gnomAD |
|
CA10190688 rs781537713 |
456 | N>S | No |
ClinGen ExAC TOPMed |
|
CA10190689 rs746444460 |
458 | L>F | No |
ClinGen ExAC |
|
rs770430583 CA10190690 |
459 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 461 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1284199360 CA411253277 |
462 | D>N | No |
ClinGen gnomAD |
|
rs143007905 CA10190707 |
464 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1392523963 CA411253330 |
466 | V>M | No |
ClinGen TOPMed |
|
CA10190708 rs746250163 |
468 | A>S | No |
ClinGen ExAC gnomAD |
|
rs866823812 CA323273855 |
468 | A>V | No |
ClinGen Ensembl |
|
CA411253480 rs1262630792 |
474 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA411253477 rs1166020585 |
474 | R>W | No |
ClinGen gnomAD |
|
CA10190711 rs780736822 |
476 | I>L | No |
ClinGen ExAC gnomAD |
|
rs780736822 CA10190710 |
476 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1248782926 CA411253512 |
477 | V>M | No |
ClinGen gnomAD |
|
rs146120713 CA411253616 |
483 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs768828867 CA10190712 |
483 | A>S | No |
ClinGen ExAC gnomAD |
|
CA10190713 rs146120713 |
483 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758927568 CA323273876 |
485 | M>V | No |
ClinGen gnomAD |
|
rs1481237772 CA411253676 |
487 | K>M | No |
ClinGen gnomAD |
|
rs553269007 CA10190714 |
488 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs553269007 CA10190715 |
488 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1428061792 CA411253685 |
488 | A>V | No |
ClinGen gnomAD |
|
CA10190716 rs772931048 |
489 | T>A | No |
ClinGen ExAC gnomAD |
|
CA411253708 rs1394014794 |
490 | T>I | No |
ClinGen gnomAD |
|
rs760496514 CA10190717 |
490 | T>P | No |
ClinGen ExAC gnomAD |
|
CA10190718 rs770827714 |
493 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA323273888 COSM1535258 rs946756010 COSM1535257 |
493 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA10190720 rs567200775 |
496 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10190721 rs764868585 |
496 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs535765873 CA411253820 |
498 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10190724 rs763863787 |
499 | D>G | No |
ClinGen ExAC gnomAD |
|
CA10190723 rs762609949 |
499 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190726 rs756585652 |
500 | R>C | No |
ClinGen ExAC gnomAD |
|
CA10190727 rs780683920 |
500 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1196853074 CA411253862 |
501 | K>R | No |
ClinGen gnomAD |
|
rs755005373 CA10190729 |
502 | K>E | No |
ClinGen ExAC gnomAD |
|
CA10190730 rs778980962 |
503 | R>C | No |
ClinGen ExAC gnomAD |
|
CA10190731 rs139813773 |
503 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
rs772300294 CA10190732 |
504 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs555986857 CA323273928 |
511 | Y>C | No |
ClinGen 1000Genomes |
|
rs201696320 | 519 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs201696320 CA10190736 |
519 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1233256532 CA411254132 |
520 | G>R | No |
ClinGen TOPMed |
|
rs780985585 CA10190758 |
521 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411254258 rs1426936828 |
522 | S>N | No |
ClinGen gnomAD |
|
CA411254275 rs1242652465 |
523 | Y>C | No |
ClinGen TOPMed |
|
CA411254268 rs1245672683 |
523 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA10190759 rs745675682 |
526 | T>M | No |
ClinGen ExAC gnomAD |
|
CA411254366 rs1258369360 |
530 | F>L | No |
ClinGen gnomAD |
|
rs748805795 CA10190762 |
533 | G>E | No |
ClinGen ExAC gnomAD |
|
CA411254431 rs768335627 |
534 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190764 rs115349954 |
535 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA10190765 rs761489425 |
537 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA411254581 rs1356597041 |
540 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs1440445912 CA411254615 |
543 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA323275014 rs941930668 |
544 | Y>C | No |
ClinGen gnomAD |
|
CA323275010 rs907566495 |
544 | Y>H | No |
ClinGen Ensembl |
|
rs1320808783 CA411254759 |
554 | L>P | No |
ClinGen gnomAD |
|
rs765588748 CA10190790 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
CA323275030 rs750237299 |
557 | G>D | No |
ClinGen Ensembl |
|
rs751602623 CA10190793 |
560 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190794 rs751602623 |
560 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411254844 rs1601447889 |
561 | K>Q | No |
ClinGen Ensembl |
|
rs1382893293 CA411254910 |
565 | E>G | No |
ClinGen TOPMed |
|
CA411254947 rs1404858356 |
567 | F>L | No |
ClinGen gnomAD |
|
CA323275043 rs937213685 |
568 | V>I | No |
ClinGen TOPMed |
|
CA323275046 rs527658172 |
569 | P>S | No |
ClinGen Ensembl |
|
rs779644268 CA10190798 |
571 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753699445 CA10190799 |
572 | C>F | No |
ClinGen ExAC gnomAD |
|
rs755843333 CA10190801 |
574 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1168342628 CA411255048 |
575 | A>D | No |
ClinGen gnomAD |
|
CA411255039 rs1408785815 |
575 | A>T | No |
ClinGen gnomAD |
|
rs777477587 CA10190805 |
578 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190804 rs771541571 |
578 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs946129705 CA323275082 |
581 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1413441757 CA411255228 |
588 | P>R | No |
ClinGen Ensembl |
|
CA10190971 rs761085598 |
592 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771265453 CA10190972 |
593 | A>T | No |
ClinGen ExAC gnomAD |
|
CA10190973 rs374493189 |
595 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA323276472 rs962213087 |
600 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA411258904 rs1282623712 |
600 | S>P | No |
ClinGen gnomAD |
|
CA411258939 rs1229079655 |
605 | S>A | No |
ClinGen gnomAD |
|
CA10190976 rs149034313 |
605 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10190977 rs149034313 |
605 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1444511890 CA411258982 |
611 | L>P | No |
ClinGen gnomAD |
|
CA10190978 rs764290466 |
612 | G>R | No |
ClinGen ExAC |
|
rs757509670 CA10190980 |
614 | P>L | No |
ClinGen ExAC gnomAD |
|
CA411259023 rs1182251650 |
615 | L>V | No |
ClinGen gnomAD |
|
CA323276483 rs952666415 |
616 | P>S | No |
ClinGen TOPMed |
|
CA411259065 rs1386273010 |
618 | E>D | No |
ClinGen TOPMed |
|
rs750250899 CA10190982 |
618 | E>G | No |
ClinGen ExAC gnomAD |
|
CA411259056 rs1322870186 |
618 | E>Q | No |
ClinGen TOPMed |
|
CA411259074 rs1397389857 |
619 | L>P | No |
ClinGen TOPMed |
|
rs923536571 CA323276484 |
621 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA411259095 rs1455511637 |
621 | E>Q | No |
ClinGen gnomAD |
|
rs1428003819 CA411259127 |
623 | D>A | No |
ClinGen TOPMed |
|
rs771073476 CA10190983 |
623 | D>H | No |
ClinGen ExAC gnomAD |
|
CA10190986 rs768337817 |
627 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778621131 CA411259197 |
628 | M>L | No |
ClinGen ExAC gnomAD |
|
CA10190988 rs747688288 |
628 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10190987 rs778621131 |
628 | M>V | No |
ClinGen ExAC gnomAD |
|
CA323276501 rs916433571 |
629 | Q>P | No |
ClinGen Ensembl |
|
CA10190990 rs776822609 |
631 | G>D | No |
ClinGen ExAC gnomAD |
|
rs377766847 CA10190989 |
631 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776822609 CA411259276 |
631 | G>V | No |
ClinGen ExAC gnomAD |
|
CA411259281 rs1199085400 |
632 | L>V | No |
ClinGen gnomAD |
|
rs371070083 CA10190991 |
633 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10190993 rs776036059 |
634 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374240104 CA10190992 |
634 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411259341 rs1180879988 |
635 | D>Y | No |
ClinGen gnomAD |
|
CA411259373 rs1378130835 |
636 | S>L | No |
ClinGen gnomAD |
|
rs1479001084 CA411259383 |
637 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA323276513 rs935290709 |
638 | P>S | No |
ClinGen TOPMed |
|
rs751677107 CA10190996 |
639 | P>S | No |
ClinGen ExAC gnomAD |
No associated diseases with P53671
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
6 GO annotations of cellular component
Name | Definition |
---|---|
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
cis-Golgi network | The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
4 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
metal ion binding | Binding to a metal ion. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
11 GO annotations of biological process
Name | Definition |
---|---|
actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
astral microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles. |
cornea development in camera-type eye | The progression of the cornea over time, from its formation to the mature structure. The cornea is the transparent structure that covers the anterior of the eye. |
establishment of vesicle localization | The directed movement of a vesicle to a specific location. |
head development | The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. |
negative regulation of cilium assembly | Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. |
phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
27 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9Y616 | IRAK3 | Interleukin-1 receptor-associated kinase 3 | Homo sapiens (Human) | PR |
Q96S53 | TESK2 | Dual specificity testis-specific protein kinase 2 | Homo sapiens (Human) | PR |
P53667 | LIMK1 | LIM domain kinase 1 | Homo sapiens (Human) | PR |
Q8K4B2 | Irak3 | Interleukin-1 receptor-associated kinase 3 | Mus musculus (Mouse) | PR |
Q8CFA1 | Irak2 | Interleukin-1 receptor-associated kinase-like 2 | Mus musculus (Mouse) | PR |
Q8VCT9 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Mus musculus (Mouse) | PR |
O54785 | Limk2 | LIM domain kinase 2 | Mus musculus (Mouse) | PR |
Q4QQS0 | Irak2 | Interleukin-1 receptor-associated kinase-like 2 | Rattus norvegicus (Rat) | PR |
Q924U5 | Tesk2 | Dual specificity testis-specific protein kinase 2 | Rattus norvegicus (Rat) | PR |
Q9ASQ5 | CRCK3 | Calmodulin-binding receptor-like cytoplasmic kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8LPS5 | SERK5 | Somatic embryogenesis receptor kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8RWW0 | ALE2 | Receptor-like serine/threonine-protein kinase ALE2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P93050 | BSH | Probable LRR receptor-like serine/threonine-protein kinase RKF3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LRP3 | At3g17420 | Probable receptor-like protein kinase At3g17420 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LSV3 | WAKL16 | Putative wall-associated receptor kinase-like 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9STF0 | LECRKS3 | Receptor like protein kinase S.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SCZ4 | FER | Receptor-like protein kinase FERONIA | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9M342 | WAKL15 | Wall-associated receptor kinase-like 15 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LYN6 | At3g56050 | Probable inactive receptor-like protein kinase At3g56050 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8VZJ9 | CRCK2 | Calmodulin-binding receptor-like cytoplasmic kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q0WNY5 | WAKL18 | Wall-associated receptor kinase-like 18 | Arabidopsis thaliana (Mouse-ear cress) | PR |
P43293 | PBL11 | Probable serine/threonine-protein kinase PBL11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94C25 | At5g20050 | Probable receptor-like protein kinase At5g20050 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FLW0 | At5g24010 | Probable receptor-like protein kinase At5g24010 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q3E8W4 | ANX2 | Receptor-like protein kinase ANXUR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LTC0 | PBL19 | Probable serine/threonine-protein kinase PBL19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FIL7 | CRCK1 | Calmodulin-binding receptor-like cytoplasmic kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MSALAGEDVW | RCPGCGDHIA | PSQIWYRTVN | ETWHGSCFRC | SECQDSLTNW | YYEKDGKLYC |
70 | 80 | 90 | 100 | 110 | 120 |
PKDYWGKFGE | FCHGCSLLMT | GPFMVAGEFK | YHPECFACMS | CKVIIEDGDA | YALVQHATLY |
130 | 140 | 150 | 160 | 170 | 180 |
CGKCHNEVVL | APMFERLSTE | SVQEQLPYSV | TLISMPATTE | GRRGFSVSVE | SACSNYATTV |
190 | 200 | 210 | 220 | 230 | 240 |
QVKEVNRMHI | SPNNRNAIHP | GDRILEINGT | PVRTLRVEEV | EDAISQTSQT | LQLLIEHDPV |
250 | 260 | 270 | 280 | 290 | 300 |
SQRLDQLRLE | ARLAPHMQNA | GHPHALSTLD | TKENLEGTLR | RRSLRRSNSI | SKSPGPSSPK |
310 | 320 | 330 | 340 | 350 | 360 |
EPLLFSRDIS | RSESLRCSSS | YSQQIFRPCD | LIHGEVLGKG | FFGQAIKVTH | KATGKVMVMK |
370 | 380 | 390 | 400 | 410 | 420 |
ELIRCDEETQ | KTFLTEVKVM | RSLDHPNVLK | FIGVLYKDKK | LNLLTEYIEG | GTLKDFLRSM |
430 | 440 | 450 | 460 | 470 | 480 |
DPFPWQQKVR | FAKGIASGMA | YLHSMCIIHR | DLNSHNCLIK | LDKTVVVADF | GLSRLIVEER |
490 | 500 | 510 | 520 | 530 | 540 |
KRAPMEKATT | KKRTLRKNDR | KKRYTVVGNP | YWMAPEMLNG | KSYDETVDIF | SFGIVLCEII |
550 | 560 | 570 | 580 | 590 | 600 |
GQVYADPDCL | PRTLDFGLNV | KLFWEKFVPT | DCPPAFFPLA | AICCRLEPES | RPAFSKLEDS |
610 | 620 | 630 | |||
FEALSLYLGE | LGIPLPAELE | ELDHTVSMQY | GLTRDSPP |