Q99759
Gene name |
MAP3K3 (MAPKKK3, MEKK3) |
Protein name |
Mitogen-activated protein kinase kinase kinase 3 |
Names |
MAPK/ERK kinase kinase 3, MEK kinase 3, MEKK 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4215 |
EC number |
2.7.11.25: 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
506-532 (Activation loop from InterPro)
Target domain |
362-622 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

421 variants for Q99759
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs551562207 CA8702286 COSM982645 |
3 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 8 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400559459 rs1235611832 |
8 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA400559535 rs992562802 |
11 | M>L | No |
ClinGen gnomAD |
|
CA8702289 rs773357327 |
11 | M>T | No |
ClinGen ExAC gnomAD |
|
CA292929928 rs992562802 |
11 | M>V | No |
ClinGen gnomAD |
|
CA400559641 rs1204202373 |
15 | V>E | No |
ClinGen gnomAD |
|
rs1208634089 CA400559623 |
15 | V>M | No |
ClinGen TOPMed |
|
CA8702292 rs774406091 |
20 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1366845047 CA400559765 |
21 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs957760333 CA292929969 |
22 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8702293 rs760586639 |
22 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1421945598 CA400559783 |
23 | H>Y | No |
ClinGen gnomAD |
|
CA292930007 rs868728863 |
24 | R>Q | No |
ClinGen gnomAD |
|
CA8702294 rs199910953 |
24 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702295 rs753831759 |
27 | G>A | No |
ClinGen ExAC gnomAD |
|
CA400559837 rs1376444271 |
27 | G>R | No |
ClinGen gnomAD |
|
CA8702296 rs145910072 |
28 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs983615858 COSM3932693 COSM1750224 CA292930040 |
32 | K>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs764760347 CA400559903 |
33 | N>S | No |
ClinGen ExAC gnomAD |
|
rs764760347 CA8702298 |
33 | N>T | No |
ClinGen ExAC gnomAD |
|
rs1277835026 CA400559961 |
36 | T>A | No |
ClinGen TOPMed |
|
CA400560012 rs1598061463 |
37 | G>V | No |
ClinGen Ensembl |
|
rs1023242624 CA292930048 |
38 | H>R | No |
ClinGen TOPMed |
|
TCGA novel | 39 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400563453 rs1365121364 |
43 | S>N | No |
ClinGen TOPMed |
|
rs1352675048 CA400563470 |
44 | D>A | No |
ClinGen TOPMed |
|
CA8702369 rs372206804 |
44 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372206804 CA292939775 |
44 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA292939776 rs1001024067 COSM1750225 COSM3932694 |
45 | V>I | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs747235726 CA8702370 |
48 | K>M | No |
ClinGen ExAC gnomAD |
|
CA400564277 rs1230878267 |
50 | E>D | No |
ClinGen gnomAD |
|
TCGA novel | 50 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1273003221 CA400564288 |
51 | H>R | No |
ClinGen gnomAD |
|
rs149314666 CA8702373 COSM97948 |
53 | G>R | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8702375 rs184639184 |
55 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8702376 rs745762268 |
55 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400564358 rs1261733963 |
56 | R>* | No |
ClinGen gnomAD |
|
rs532359502 CA8702403 |
58 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8702404 rs531230584 |
59 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs761117004 CA8702406 |
61 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761117004 CA400566184 |
61 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766920130 CA400566226 |
62 | R>P | No |
ClinGen ExAC gnomAD |
|
rs766920130 CA8702407 |
62 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1477555164 CA400566217 |
62 | R>W | No |
ClinGen gnomAD |
|
CA400566384 rs1568132839 |
70 | E>G | No |
ClinGen Ensembl |
|
rs991373817 CA292943949 |
71 | H>Y | No |
ClinGen Ensembl |
|
CA292943951 rs764495536 |
72 | K>R | No |
ClinGen gnomAD |
|
COSM1214419 CA8702409 rs755109399 |
75 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1447424546 CA400566564 |
79 | Q>K | No |
ClinGen TOPMed |
|
CA400566612 rs919542124 |
81 | L>F | No |
ClinGen TOPMed |
|
rs919542124 CA292943972 |
81 | L>V | No |
ClinGen TOPMed |
|
rs756320615 CA8702412 |
85 | Y>N | No |
ClinGen ExAC gnomAD |
|
rs1352881305 CA400566729 |
86 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA292943983 rs949924451 |
86 | M>V | No |
ClinGen gnomAD |
|
rs1227087534 CA400566756 |
87 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8702413 rs778598069 |
88 | N>D | No |
ClinGen ExAC gnomAD |
|
CA8702414 rs750283630 |
88 | N>S | No |
ClinGen ExAC gnomAD |
|
rs751544538 CA8702435 |
93 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA8702436 rs754924253 |
95 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1169442799 CA400568978 |
96 | N>S | No |
ClinGen gnomAD |
|
CA400569006 rs1273730100 |
97 | Q>R | No |
ClinGen gnomAD |
|
CA400569040 rs1568135703 |
98 | D>E | No |
ClinGen Ensembl |
|
rs1392458792 CA400569017 |
98 | D>H | No |
ClinGen gnomAD |
|
CA400569021 rs1392458792 |
98 | D>N | No |
ClinGen gnomAD |
|
rs780588217 CA8702437 |
99 | D>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 100 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747742093 CA8702438 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
rs769154360 CA8702439 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
CA292948033 rs1051842818 |
105 | D>E | No |
ClinGen Ensembl |
|
CA8702440 rs777548849 |
105 | D>G | No |
ClinGen ExAC gnomAD |
|
CA400569191 rs1416587975 |
105 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs748881884 CA8702441 |
108 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366117704 CA400569323 |
110 | S>R | No |
ClinGen gnomAD |
|
TCGA novel | 112 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1299321265 CA400569375 |
112 | S>N | No |
ClinGen gnomAD |
|
CA8702442 rs148711373 |
113 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374735208 CA8702443 |
116 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1404085613 CA400569555 |
117 | R>K | No |
ClinGen TOPMed |
|
rs1280706133 CA400569581 CA400569576 |
118 | I>L | No |
ClinGen gnomAD |
|
rs760060741 CA8702444 |
118 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1441881728 CA400569645 |
120 | L>Q | No |
ClinGen gnomAD |
|
rs1250156409 CA400569720 |
122 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA400569786 rs1197113816 |
124 | D>V | No |
ClinGen gnomAD |
|
rs1447823821 CA400569881 |
127 | H>P | No |
ClinGen gnomAD |
|
rs1041649176 CA292906934 |
128 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs1208335913 CA400560378 |
128 | N>S | No |
ClinGen gnomAD |
|
CA400560397 rs1278640447 |
129 | S>G | No |
ClinGen TOPMed |
|
TCGA novel | 129 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1268561080 CA400560401 |
129 | S>N | No |
ClinGen gnomAD |
|
CA400560394 rs1278640447 |
129 | S>R | No |
ClinGen TOPMed |
|
rs755708063 CA8702457 |
131 | S>F | No |
ClinGen ExAC gnomAD |
|
rs141438505 CA8702459 |
133 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141438505 CA8702460 |
133 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141438505 CA8702458 |
133 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8702461 rs778517747 |
134 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 138 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 138 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1162103729 CA400560739 |
139 | Q>K | No |
ClinGen TOPMed |
|
CA400560748 rs1474680011 |
139 | Q>P | No |
ClinGen TOPMed |
|
rs776126405 CA8702464 |
140 | V>M | No |
ClinGen ExAC gnomAD |
|
rs568640776 CA292906991 |
141 | R>Q | No |
ClinGen gnomAD |
|
rs761104061 CA8702465 |
141 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702466 rs768781864 |
142 | I>L | No |
ClinGen ExAC gnomAD |
|
CA8702467 rs374801462 |
143 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
rs35028835 CA292907019 |
144 | A>G | No |
ClinGen Ensembl |
|
rs1195812994 CA400560820 |
144 | A>T | No |
ClinGen TOPMed |
|
rs1427164192 CA400560859 |
146 | Q>P | No |
ClinGen TOPMed |
|
CA8702469 rs139576613 |
148 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA292907042 rs139576613 |
148 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1290352112 CA400560921 |
148 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 149 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 150 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773535213 CA8702470 |
151 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8702472 rs201709115 |
152 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8702471 rs759442484 |
152 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs1489562470 CA400561017 |
154 | I>T | No |
ClinGen gnomAD |
|
rs752685930 CA400561058 |
157 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702476 rs763617586 |
157 | P>H | No |
ClinGen ExAC gnomAD |
|
CA8702475 rs763617586 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
rs752685930 CA8702474 |
157 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702473 rs752685930 |
157 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA292907116 rs1022609171 |
158 | P>L | No |
ClinGen gnomAD |
|
rs1022609171 CA400561063 |
158 | P>R | No |
ClinGen gnomAD |
|
rs745509910 CA8702479 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1369849994 CA400561065 |
159 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1208446998 | 159 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1455997663 CA400561092 |
160 | P>H | No |
ClinGen gnomAD |
|
CA292907147 rs768845358 |
161 | R>G | No |
ClinGen ExAC gnomAD |
|
CA400561106 rs1370920864 |
161 | R>T | No |
ClinGen gnomAD |
|
rs1306078389 CA400561141 |
163 | R>S | No |
ClinGen gnomAD |
|
CA400561220 rs367914417 |
164 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA292907174 rs928510869 |
165 | L>R | No |
ClinGen gnomAD |
|
CA8702485 rs748275986 |
166 | S>F | No |
ClinGen ExAC gnomAD |
|
rs554729342 CA8702500 |
170 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755335974 CA8702502 |
171 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702503 rs374807460 |
172 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770006698 CA8702504 |
172 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702505 rs777960277 |
175 | S>N | No |
ClinGen ExAC gnomAD |
|
rs749547349 CA8702506 COSM1385173 |
178 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA400564848 rs1248289487 |
179 | P>S | No |
ClinGen gnomAD |
|
CA400564896 rs1186452717 |
181 | Y>C | No |
ClinGen gnomAD |
|
CA400564910 rs1280412757 |
182 | V>I | No |
ClinGen gnomAD |
|
CA400564971 rs774603132 |
185 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8702508 rs774603132 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA400564989 rs1598113098 |
187 | Q>E | No |
ClinGen Ensembl |
|
rs745343360 CA292917150 |
187 | Q>R | No |
ClinGen Ensembl |
|
rs1057241127 CA292917153 |
189 | I>F | No |
ClinGen Ensembl |
|
rs1336098078 CA400565084 |
192 | Q>H | No |
ClinGen gnomAD |
|
CA400565126 rs1598113143 |
194 | S>A | No |
ClinGen Ensembl |
|
CA292917158 rs866349133 |
197 | S>N | No |
ClinGen Ensembl |
|
TCGA novel | 203 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs547108714 CA8702511 |
208 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1310911007 CA400565498 |
209 | S>G | No |
ClinGen gnomAD |
|
rs1209421331 CA400565516 |
210 | E>K | No |
ClinGen gnomAD |
|
rs749850994 CA8702514 |
211 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702529 rs542260882 |
213 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1321884842 CA400565990 |
216 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 221 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778266515 CA292919466 |
223 | S>T | No |
ClinGen Ensembl |
|
rs1490181764 CA400566045 |
224 | L>F | No |
ClinGen gnomAD |
|
rs748109392 CA8702531 |
225 | S>P | No |
ClinGen ExAC gnomAD |
|
CA400566058 rs1252675599 |
227 | S>G | No |
ClinGen gnomAD |
|
rs1252675599 CA400566057 |
227 | S>R | No |
ClinGen gnomAD |
|
rs1028106301 CA292919493 |
232 | D>N | No |
ClinGen Ensembl |
|
rs1407549847 CA400566140 |
233 | R>T | No |
ClinGen gnomAD |
|
CA400566179 rs1314599907 |
235 | A>G | No |
ClinGen TOPMed |
|
rs747980360 CA400567211 |
241 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747980360 CA8702550 |
241 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8702549 rs201427854 |
241 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327667606 COSM982649 CA400567265 |
244 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs769629755 CA8702551 |
244 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1214307160 CA400567305 |
246 | S>Y | No |
ClinGen gnomAD |
|
rs1282098667 CA400567323 |
247 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1282098667 CA400567319 |
247 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs773083246 CA8702552 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 247 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770352176 CA8702554 |
252 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773871394 CA400567462 |
253 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400567466 rs1195146315 |
254 | N>D | No |
ClinGen gnomAD |
|
rs1272441798 CA400567481 |
255 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1272441798 CA400567482 |
255 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs759095415 CA8702556 |
256 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA8702558 rs775275166 |
257 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702557 rs767317282 |
257 | E>G | No |
ClinGen ExAC gnomAD |
|
CA400567504 rs767317282 |
257 | E>V | No |
ClinGen ExAC gnomAD |
|
CA8702559 rs761176612 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs200364244 CA8702571 |
260 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1382490890 CA400567545 |
260 | D>N | No |
ClinGen TOPMed |
|
CA292921694 rs200364244 |
260 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400567636 rs146112270 |
261 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8702573 rs371194292 |
261 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs146112270 CA8702572 |
261 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs901924145 CA292921717 |
262 | E>A | No |
ClinGen Ensembl |
|
rs771693753 CA8702574 |
266 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8702576 rs760333977 |
268 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139920227 CA400567847 |
270 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139920227 CA400567843 |
270 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139920227 CA8702577 |
270 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8702578 rs777002011 |
271 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1598122037 CA400567954 |
275 | Y>S | No |
ClinGen Ensembl |
|
rs763081777 CA8702582 |
277 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA400567991 rs1173724169 COSM245573 |
277 | R>W | Variant assessed as Somatic; 0.0 impact. prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA400568006 rs1457492910 |
278 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs368873892 CA8702583 COSM982651 |
278 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs368873892 CA400568016 |
278 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1050901169 CA292921816 |
280 | H>N | No |
ClinGen TOPMed |
|
RCV000885411 rs36109904 CA8702585 VAR_040685 |
281 | V>M | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370717303 CA8702586 |
283 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
CA400568115 rs1323902778 |
283 | V>M | No |
ClinGen gnomAD |
|
CA8702588 rs753706365 |
284 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA8702589 rs756997078 |
286 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1011855480 CA292921846 |
286 | K>R | No |
ClinGen TOPMed |
|
CA292921862 rs1023626299 |
288 | Y>H | No |
ClinGen Ensembl |
|
CA8702609 rs750413982 |
292 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1187774612 CA400569294 |
292 | R>S | No |
ClinGen gnomAD |
|
TCGA novel | 293 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1422533446 CA400569357 |
295 | F>L | No |
ClinGen gnomAD |
|
rs149846705 CA8702611 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8702613 COSM1189535 rs754446404 |
299 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8702612 rs370207376 COSM982657 |
299 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs747700437 CA8702615 |
300 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199571831 CA8702616 |
300 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199571831 CA400569501 |
300 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400569655 rs1598123051 |
307 | T>P | No |
ClinGen Ensembl |
|
rs773528129 CA8702617 |
308 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749817590 CA8702618 |
309 | V>L | No |
ClinGen ExAC gnomAD |
|
rs771477615 CA8702619 |
311 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1249153560 CA400569776 |
313 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs994733913 CA292922413 |
313 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs994733913 CA400569798 |
313 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1026101631 CA292922422 |
316 | S>N | No |
ClinGen Ensembl |
|
CA400569970 CA8702623 rs775783118 |
320 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702622 rs767436855 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA400569998 rs1465923230 |
322 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs372390229 CA8702624 |
322 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1451311071 CA400570021 |
323 | G>D | No |
ClinGen gnomAD |
|
rs1390549871 CA400570007 |
323 | G>S | No |
ClinGen gnomAD |
|
rs34042309 VAR_037275 CA292922480 |
325 | A>G | No |
ClinGen UniProt dbSNP gnomAD |
|
rs34042309 CA400570051 |
325 | A>V | No |
ClinGen gnomAD |
|
rs1054395177 CA292922490 |
326 | V>M | No |
ClinGen TOPMed |
|
rs964350175 CA292922491 |
328 | Y>H | No |
ClinGen TOPMed |
|
CA8702625 rs765143147 |
330 | D>E | No |
ClinGen ExAC gnomAD |
|
rs915797254 CA292922516 |
331 | P>H | No |
ClinGen TOPMed |
|
rs750289116 CA400570107 |
331 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750289116 CA8702626 |
331 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702628 rs766496256 |
332 | R>C | Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA292922534 rs372179093 |
332 | R>H | No |
ClinGen TOPMed |
|
rs869233786 | 332 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751441762 CA400570121 |
334 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702629 rs751441762 |
334 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754533496 CA8702630 |
334 | R>H | No |
ClinGen ExAC gnomAD |
|
rs747867118 CA8702632 |
336 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702631 rs780502633 |
336 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755715664 CA8702633 |
337 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201458544 CA8702634 |
338 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771271392 CA8702636 |
339 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1202619222 CA400570198 |
340 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs907003390 CA292922609 |
341 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1184509514 CA400570236 |
342 | N>D | No |
ClinGen gnomAD |
|
rs1336289198 CA400570247 |
342 | N>S | No |
ClinGen gnomAD |
|
CA400570272 rs1244157374 |
344 | L>V | No |
ClinGen TOPMed |
|
CA8702639 rs746292640 |
348 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA400570361 rs1176968473 |
349 | R>K | No |
ClinGen gnomAD |
|
TCGA novel | 350 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8702640 rs772222539 |
350 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1598123413 CA400570425 |
353 | T>S | No |
ClinGen Ensembl |
|
CA8702658 rs546447902 |
357 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs747155850 CA8702659 |
357 | S>R | No |
ClinGen ExAC |
|
CA292923097 rs997234056 |
361 | N>S | No |
ClinGen gnomAD |
|
rs1283341292 CA400570672 |
363 | R>C | No |
ClinGen gnomAD |
|
CA8702660 rs768847997 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA400570687 rs764375472 |
364 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702662 rs764375472 |
364 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777009629 CA8702661 |
364 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400570715 rs1568155526 |
366 | K>R | No |
ClinGen Ensembl |
|
rs148821588 CA8702663 |
367 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1598124280 CA400570776 |
370 | Q>R | No |
ClinGen Ensembl |
|
TCGA novel | 371 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 371 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8702665 rs759352927 |
372 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1470540654 CA400570834 |
374 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA400570852 rs1175671702 |
375 | R>G | No |
ClinGen gnomAD |
|
CA400570865 rs1407480712 |
375 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA400570881 rs1598124343 |
376 | V>G | No |
ClinGen Ensembl |
|
rs1165798317 CA400570891 |
377 | Y>C | No |
ClinGen gnomAD |
|
CA292923151 rs901861960 |
382 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs763526019 CA8702669 |
384 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs756808678 CA8702671 COSM1385174 |
386 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA400571049 rs1379366668 |
386 | R>H | No |
ClinGen gnomAD |
|
CA400571047 rs1379366668 |
386 | R>L | No |
ClinGen gnomAD |
|
rs1568155631 CA400571070 |
388 | L>F | No |
ClinGen Ensembl |
|
rs1247901635 CA400571087 |
389 | A>V | No |
ClinGen gnomAD |
|
CA8702673 rs375031748 |
392 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1417521726 CA400571134 |
393 | V>I | No |
ClinGen TOPMed |
|
rs201376513 CA8702675 |
397 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 398 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768864371 CA8702677 |
399 | S>G | No |
ClinGen ExAC |
|
rs1232535625 CA400571227 |
400 | P>A | No |
ClinGen gnomAD |
|
rs769961099 CA8702680 |
402 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1453992625 CA400571919 |
411 | C>R | No |
ClinGen gnomAD |
|
rs1400087576 CA400571942 |
412 | E>G | No |
ClinGen gnomAD |
|
CA400571932 rs1382486715 |
412 | E>K | No |
ClinGen gnomAD |
|
CA400571984 rs1347255762 |
414 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 417 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400572058 rs1281446200 |
419 | L>S | No |
ClinGen gnomAD |
|
rs777869698 CA8702716 |
420 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA400572073 rs1281681903 |
420 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8702717 rs749494387 |
421 | H>N | No |
ClinGen ExAC gnomAD |
|
rs746868574 CA8702720 |
423 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400572134 rs1219703682 COSM982661 |
423 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1267542104 CA400572142 |
424 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs776560365 CA8702722 |
425 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8702723 rs776560365 |
425 | V>M | No |
ClinGen ExAC gnomAD |
|
CA400572223 rs1369913003 |
428 | Y>C | No |
ClinGen TOPMed |
|
CA400572238 rs1434017021 |
429 | G>C | No |
ClinGen TOPMed |
|
CA292923742 rs1006020517 |
429 | G>D | No |
ClinGen gnomAD |
|
TCGA novel | 429 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8702726 rs762349103 |
432 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1390067438 CA400572338 |
433 | D>E | No |
ClinGen gnomAD |
|
CA8702727 rs766174733 |
433 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368232481 CA8702728 |
434 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368232481 CA8702729 |
434 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371837391 CA8702730 |
434 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA292923812 VAR_037276 rs9910858 |
435 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
rs376092350 CA8702732 |
435 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400572396 rs1311300884 |
436 | E>K | No |
ClinGen Ensembl |
|
rs1316165392 CA400572440 |
437 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA400572432 rs1367378410 |
437 | K>R | No |
ClinGen gnomAD |
|
rs61737830 CA8702734 |
438 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 439 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8702735 rs757320092 |
439 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1480692639 CA400572492 |
441 | I>V | No |
ClinGen gnomAD |
|
CA400572537 rs1488340717 |
443 | M>V | No |
ClinGen TOPMed |
|
CA8702736 rs779162078 |
446 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1477623445 CA400572853 |
451 | V>L | No |
ClinGen TOPMed |
|
CA400572887 rs1209246033 |
453 | D>N | No |
ClinGen gnomAD |
|
CA8702765 rs147563538 |
464 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8702768 rs761154998 |
465 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761154998 CA8702767 |
465 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1346123153 CA400573186 |
466 | T>I | No |
ClinGen gnomAD |
|
rs577384322 CA8702769 |
467 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 471 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1405033518 CA400573292 |
473 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA8702773 rs762993883 |
477 | M>I | No |
ClinGen ExAC gnomAD |
|
CA8702774 rs182553269 |
478 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 479 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA292924301 rs367720019 |
482 | S>G | No |
ClinGen Ensembl |
|
TCGA novel | 482 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776940651 CA8702777 |
484 | M>I | No |
ClinGen ExAC gnomAD |
|
CA8702776 rs755952221 |
484 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1329731681 CA400573469 |
484 | M>V | No |
ClinGen TOPMed |
|
CA8702778 rs369531094 |
485 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
CA8702780 rs77866388 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs757306885 CA8702779 |
488 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 510 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400574285 rs1355988216 |
512 | K>R | No |
ClinGen gnomAD |
|
CA292924673 rs992780814 |
513 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs746700251 CA8702804 |
515 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1215446675 CA400574392 |
516 | T>M | No |
ClinGen TOPMed |
|
CA292924724 rs1009976119 |
519 | M>I | No |
ClinGen Ensembl |
|
CA8702806 rs144796639 |
519 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400574576 rs1226725135 |
520 | S>L | No |
ClinGen TOPMed |
|
CA8702809 rs773722519 |
522 | T>M | No |
ClinGen ExAC gnomAD |
|
rs771075974 CA8702811 |
523 | G>C | No |
ClinGen ExAC gnomAD |
|
rs200968266 CA8702812 |
524 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs368376876 CA8702813 |
525 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368376876 CA400574726 |
525 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772489241 CA8702814 |
525 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400574751 rs772489241 |
525 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761709890 CA8702816 |
527 | V>I | No |
ClinGen ExAC gnomAD |
|
CA8702818 rs750413926 |
530 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400574918 rs750413926 |
530 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 533 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762747364 CA8702819 |
540 | S>C | No |
ClinGen ExAC gnomAD |
|
rs202160737 CA292924790 |
541 | G>S | No |
ClinGen 1000Genomes |
|
rs1470835367 CA400575209 |
542 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8702821 rs751073898 |
544 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA292924796 rs1001042867 |
544 | Y>H | No |
ClinGen Ensembl |
|
TCGA novel | 545 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754509552 CA8702822 |
547 | K>R | No |
ClinGen ExAC gnomAD |
|
CA292925947 rs750420240 |
554 | G>A | No |
ClinGen Ensembl |
|
rs759061216 CA8702841 |
556 | T>S | No |
ClinGen ExAC gnomAD |
|
rs150374712 CA8702843 |
557 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400576693 rs1487590679 |
562 | T>A | No |
ClinGen gnomAD |
|
CA400576734 rs1568158365 CA400576735 |
564 | K>N | No |
ClinGen Ensembl |
|
TCGA novel | 566 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1598128991 CA400576897 |
573 | M>R | No |
ClinGen Ensembl |
|
rs1598129009 CA400576941 |
575 | A>G | No |
ClinGen Ensembl |
|
rs757626698 CA8702848 |
575 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1298185299 CA400576953 |
576 | I>V | No |
ClinGen TOPMed |
|
CA400577001 rs1160019670 |
578 | K>R | No |
ClinGen gnomAD |
|
rs1598129032 CA400577052 |
581 | T>P | No |
ClinGen Ensembl |
|
CA8702849 rs779301433 |
583 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8702850 rs779301433 |
583 | P>R | No |
ClinGen ExAC gnomAD |
|
CA8702851 rs772305243 |
585 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs889483840 CA292926006 |
587 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs747061434 CA8702853 |
587 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA400577283 rs1328686600 |
591 | H>R | No |
ClinGen TOPMed |
|
CA400577301 rs1435697933 |
592 | I>M | No |
ClinGen TOPMed |
|
rs769042361 CA8702854 |
595 | H>D | No |
ClinGen ExAC gnomAD |
|
rs1330673530 CA400577335 |
595 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs776910307 CA8702855 |
596 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1352214077 COSM175771 CA400577358 |
597 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1311899564 COSM48529 CA400577356 |
597 | R>W | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA400577366 rs1240017475 |
598 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs549447984 CA8702856 |
602 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770706062 CA8702857 |
602 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs770706062 CA400577420 |
602 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8702858 rs774161042 |
603 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 604 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400577454 rs1266240817 |
605 | V>M | No |
ClinGen gnomAD |
|
rs61737831 CA8702859 |
608 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400577505 rs61737831 |
608 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8702860 COSM1196206 rs201464511 |
608 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs775019440 CA8702861 |
609 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1445489020 CA400577599 |
613 | A>T | No |
ClinGen gnomAD |
|
CA8702863 rs200161650 |
622 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs142840047 CA8702864 |
624 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1333837448 CA400577861 |
625 | M>I | No |
ClinGen gnomAD |
|
rs957850875 CA292926058 |
625 | M>T | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q99759
4 regional properties for Q99759
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.25 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
2 GO annotations of cellular component
6 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
MAP kinase kinase kinase activity | Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases. |
metal ion binding | Binding to a metal ion. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
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. |
9 GO annotations of biological process
Name | Definition |
---|---|
blood vessel development | The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
negative regulation of cellular senescence | Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence. |
positive regulation of cell migration involved in sprouting angiogenesis | Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis. |
positive regulation of cell proliferation in bone marrow | A process that activates or increases the frequency, rate or extent of cell proliferation in the bone marrow. |
positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
positive regulation of p38MAPK cascade | Any process that activates or increases the frequency, rate or extent of p38MAPK cascade. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
9 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P51957 | NEK4 | Serine/threonine-protein kinase Nek4 | Homo sapiens (Human) | PR |
Q9Y3S1 | WNK2 | Serine/threonine-protein kinase WNK2 | Homo sapiens (Human) | SS |
Q9UHY1 | NRBP1 | Nuclear receptor-binding protein | Homo sapiens (Human) | PR |
Q9H4A3 | WNK1 | Serine/threonine-protein kinase WNK1 | Homo sapiens (Human) | SS |
Q9BYP7 | WNK3 | Serine/threonine-protein kinase WNK3 | Homo sapiens (Human) | SS |
Q9Y2U5 | MAP3K2 | Mitogen-activated protein kinase kinase kinase 2 | Homo sapiens (Human) | PR |
Q61083 | Map3k2 | Mitogen-activated protein kinase kinase kinase 2 | Mus musculus (Mouse) | PR |
Q61084 | Map3k3 | Mitogen-activated protein kinase kinase kinase 3 | Mus musculus (Mouse) | PR |
O22042 | ANP3 | Mitogen-activated protein kinase kinase kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MDEQEALNSI | MNDLVALQMN | RRHRMPGYET | MKNKDTGHSN | RQSDVRIKFE | HNGERRIIAF |
70 | 80 | 90 | 100 | 110 | 120 |
SRPVKYEDVE | HKVTTVFGQP | LDLHYMNNEL | SILLKNQDDL | DKAIDILDRS | SSMKSLRILL |
130 | 140 | 150 | 160 | 170 | 180 |
LSQDRNHNSS | SPHSGVSRQV | RIKASQSAGD | INTIYQPPEP | RSRHLSVSSQ | NPGRSSPPPG |
190 | 200 | 210 | 220 | 230 | 240 |
YVPERQQHIA | RQGSYTSINS | EGEFIPETSE | QCMLDPLSSA | ENSLSGSCQS | LDRSADSPSF |
250 | 260 | 270 | 280 | 290 | 300 |
RKSRMSRAQS | FPDNRQEYSD | RETQLYDKGV | KGGTYPRRYH | VSVHHKDYSD | GRRTFPRIRR |
310 | 320 | 330 | 340 | 350 | 360 |
HQGNLFTLVP | SSRSLSTNGE | NMGLAVQYLD | PRGRLRSADS | ENALSVQERN | VPTKSPSAPI |
370 | 380 | 390 | 400 | 410 | 420 |
NWRRGKLLGQ | GAFGRVYLCY | DVDTGRELAS | KQVQFDPDSP | ETSKEVSALE | CEIQLLKNLQ |
430 | 440 | 450 | 460 | 470 | 480 |
HERIVQYYGC | LRDRAEKTLT | IFMEYMPGGS | VKDQLKAYGA | LTESVTRKYT | RQILEGMSYL |
490 | 500 | 510 | 520 | 530 | 540 |
HSNMIVHRDI | KGANILRDSA | GNVKLGDFGA | SKRLQTICMS | GTGMRSVTGT | PYWMSPEVIS |
550 | 560 | 570 | 580 | 590 | 600 |
GEGYGRKADV | WSLGCTVVEM | LTEKPPWAEY | EAMAAIFKIA | TQPTNPQLPS | HISEHGRDFL |
610 | 620 | ||||
RRIFVEARQR | PSAEELLTHH | FAQLMY |