Q92918
EV
Gene name |
MAP4K1 (HPK1) |
Protein name |
Mitogen-activated protein kinase kinase kinase kinase 1 |
Names |
Hematopoietic progenitor kinase, MAPK/ERK kinase kinase kinase 1, MEK kinase kinase 1, MEKKK 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11184 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
STERILE20-LIKE KINASE, ISOFORM B-RELATED (PTHR48012) |
Descriptions
MAP4K1 may play a role in the response to environmental stress. Its autoinhibitory domain is at residues 474-687 in the Leu-rich domain. It inhibits MAPK/ERK kinase binding (reversible, stimulus-induced membrane translocation, which is required for activation) possibly via structural motifs.
Autoinhibitory domains (AIDs)
Target domain |
17-274 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
154-177 (Activation loop from InterPro)
Target domain |
17-274 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
24 structures for Q92918
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6CQD | X-ray | 212 A | A/B | 2-293 | PDB |
| 6CQE | X-ray | 189 A | A/B | 2-293 | PDB |
| 6CQF | X-ray | 225 A | A | 2-293 | PDB |
| 6NFY | X-ray | 217 A | A/B | 10-307 | PDB |
| 6NFZ | X-ray | 297 A | A/B | 1-307 | PDB |
| 6NG0 | X-ray | 205 A | A/B | 1-307 | PDB |
| 7KAC | X-ray | 185 A | A/B | 1-319 | PDB |
| 7L24 | X-ray | 268 A | A/B/C/D | 7-294 | PDB |
| 7L25 | X-ray | 185 A | A/B | 6-294 | PDB |
| 7L26 | X-ray | 230 A | A/B/C/D | 8-294 | PDB |
| 7M0K | X-ray | 201 A | A/B/C/D | 6-294 | PDB |
| 7M0L | X-ray | 243 A | A/B/C/D | 5-294 | PDB |
| 7M0M | X-ray | 193 A | A/B | 2-294 | PDB |
| 7R9L | X-ray | 233 A | A | 2-293 | PDB |
| 7R9N | X-ray | 150 A | A/B | 2-293 | PDB |
| 7R9P | X-ray | 227 A | A/B | 2-293 | PDB |
| 7R9T | X-ray | 200 A | A/B | 2-293 | PDB |
| 7SIU | X-ray | 179 A | A/B | 2-295 | PDB |
| 8CDW | X-ray | 194 A | A/B | 1-307 | PDB |
| 8CIJ | X-ray | 282 A | A | 1-307 | PDB |
| 8FH4 | X-ray | 183 A | A/B/C/D | 1-307 | PDB |
| 8FJZ | X-ray | 190 A | A/B/C/D/E/F | 1-307 | PDB |
| 8FKO | X-ray | 210 A | A/B/C/D/E/F | 1-307 | PDB |
| AF-Q92918-F1 | Predicted | AlphaFoldDB |
1006 variants for Q92918
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs573655515 | 3 | V>F | No |
1000Genomes ExAC gnomAD |
|
|
rs573655515 CA405704316 |
3 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs573655515 | 3 | V>I | No |
1000Genomes ExAC gnomAD |
|
|
rs573655515 CA9416840 |
3 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1034295370 | 5 | D>G | No | Ensembl | |
|
CA308107032 rs1034295370 |
5 | D>G | No |
ClinGen Ensembl |
|
| rs1259079683 | 6 | P>R | No | TOPMed | |
|
rs1259079683 CA405704240 |
6 | P>R | No |
ClinGen TOPMed |
|
|
rs376153732 CA9416837 |
9 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
| rs376153732 | 9 | F>Y | No |
ESP ExAC gnomAD |
|
| rs756559886 | 10 | N>H | No |
ExAC gnomAD |
|
|
CA9416836 rs756559886 |
10 | N>H | No |
ClinGen ExAC gnomAD |
|
| rs751124465 | 10 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs751124465 CA9416835 |
10 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1466997448 | 13 | P>A | No | gnomAD | |
|
CA405704074 rs1466997448 |
13 | P>A | No |
ClinGen gnomAD |
|
| rs1204935765 | 14 | R>W | No |
TOPMed gnomAD |
|
|
rs1204935765 CA405704048 |
14 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA405703867 rs1270787202 |
21 | Q>R | No |
ClinGen gnomAD |
|
| rs1270787202 | 21 | Q>R | No | gnomAD | |
|
CA308106983 rs970738087 |
26 | G>A | No |
ClinGen Ensembl |
|
| rs970738087 | 26 | G>A | No | Ensembl | |
| rs1316820491 | 26 | G>S | No |
TOPMed gnomAD |
|
|
CA405703767 rs1316820491 |
26 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405703715 COSM996107 rs1302260800 |
27 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1302260800 | 27 | T>M | No | gnomAD | |
| rs759286207 | 27 | T>P | No | ExAC | |
|
CA9416830 rs759286207 |
27 | T>P | No |
ClinGen ExAC |
|
|
rs759286207 CA405703726 |
27 | T>S | No |
ClinGen ExAC |
|
| rs759286207 | 27 | T>S | No | ExAC | |
|
rs746887602 CA9416828 |
28 | Y>D | No |
ClinGen ExAC gnomAD |
|
| rs746887602 | 28 | Y>D | No |
ExAC gnomAD |
|
|
rs746887602 CA9416827 |
28 | Y>H | No |
ClinGen ExAC gnomAD |
|
| rs746887602 | 28 | Y>H | No |
ExAC gnomAD |
|
| rs1462802272 | 30 | E>D | No |
TOPMed gnomAD |
|
|
rs1462802272 CA405703613 |
30 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9416825 rs772261969 |
30 | E>G | No |
ClinGen ExAC |
|
| rs772261969 | 30 | E>G | No | ExAC | |
|
rs1599724971 CA405703599 |
31 | V>G | No |
ClinGen Ensembl |
|
| rs1599724971 | 31 | V>G | No | Ensembl | |
|
rs1025012244 CA308106959 |
31 | V>I | No |
ClinGen Ensembl |
|
| rs1025012244 | 31 | V>I | No | Ensembl | |
|
rs1354470377 CA405703591 |
32 | F>V | No |
ClinGen TOPMed gnomAD |
|
| rs1354470377 | 32 | F>V | No |
TOPMed gnomAD |
|
|
CA405703412 rs1315959892 |
34 | A>S | No |
ClinGen TOPMed |
|
| rs1315959892 | 34 | A>S | No | TOPMed | |
|
CA405703394 rs1173162055 |
35 | R>* | No |
ClinGen gnomAD |
|
| rs1173162055 | 35 | R>* | No | gnomAD | |
| rs1464608790 | 35 | R>Q | No | gnomAD | |
|
CA405703389 rs1464608790 |
35 | R>Q | No |
ClinGen gnomAD |
|
| rs1365761138 | 36 | D>H | No |
TOPMed gnomAD |
|
|
rs1365761138 CA405703376 |
36 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1365761138 CA405703374 |
36 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| rs1365761138 | 36 | D>Y | No |
TOPMed gnomAD |
|
|
CA308106781 rs1008304148 |
41 | D>N | No |
ClinGen Ensembl |
|
| rs1008304148 | 41 | D>N | No | Ensembl | |
|
CA405703192 rs1305571207 |
42 | L>Q | No |
ClinGen TOPMed |
|
| rs1305571207 | 42 | L>Q | No | TOPMed | |
|
rs200257489 CA9416806 |
48 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs200257489 | 48 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs200257489 | 48 | V>M | No |
1000Genomes ExAC gnomAD |
|
|
rs200257489 CA405703086 |
48 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs774554997 | 50 | M>V | No |
ExAC gnomAD |
|
|
rs774554997 CA9416805 |
50 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs769042402 | 51 | E>Q | No |
ExAC gnomAD |
|
|
rs769042402 CA9416804 |
51 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs749470097 | 52 | P>T | No |
ExAC gnomAD |
|
|
CA9416803 rs749470097 |
52 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs1274662266 | 54 | D>G | No | gnomAD | |
|
rs1274662266 CA405702797 |
54 | D>G | No |
ClinGen gnomAD |
|
| rs1191169276 | 54 | D>H | No | TOPMed | |
|
CA405702805 rs1191169276 |
54 | D>H | No |
ClinGen TOPMed |
|
|
rs1215951660 CA405702762 |
56 | V>I | No |
ClinGen gnomAD |
|
| rs1215951660 | 56 | V>I | No | gnomAD | |
| rs1205949069 | 58 | T>I | No | gnomAD | |
|
rs1205949069 CA405702713 |
58 | T>I | No |
ClinGen gnomAD |
|
|
CA405702658 rs1293234133 |
61 | K>R | No |
ClinGen gnomAD |
|
| rs1293234133 | 61 | K>R | No | gnomAD | |
| rs768606462 | 63 | I>M | No |
ExAC gnomAD |
|
|
CA9416787 rs768606462 |
63 | I>M | No |
ClinGen ExAC gnomAD |
|
| rs1328673669 | 65 | I>V | No | gnomAD | |
|
rs1328673669 CA405702580 |
65 | I>V | No |
ClinGen gnomAD |
|
| rs1319382622 | 68 | T>I | No | gnomAD | |
|
CA405702499 rs1319382622 |
68 | T>I | No |
ClinGen gnomAD |
|
|
rs35079766 CA9416786 |
70 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs35079766 | 70 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1179878816 | 70 | R>Q | No | TOPMed | |
|
rs1179878816 CA405702467 |
70 | R>Q | No |
ClinGen TOPMed |
|
| rs35079766 | 70 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35079766 CA9416785 |
70 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9416784 rs770226001 |
71 | H>R | No |
ClinGen ExAC |
|
| rs770226001 | 71 | H>R | No | ExAC | |
| rs781514607 | 72 | A>T | No |
ExAC TOPMed gnomAD |
|
|
CA9416782 rs781514607 |
72 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328095093 CA405702401 |
73 | N>S | No |
ClinGen gnomAD |
|
| rs1328095093 | 73 | N>S | No | gnomAD | |
|
CA9416780 rs747508390 |
75 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs747508390 | 75 | V>M | No |
ExAC gnomAD |
|
|
rs1476380541 CA405702295 |
78 | H>R | No |
ClinGen gnomAD |
|
| rs1476380541 | 78 | H>R | No | gnomAD | |
|
rs550519471 CA9416779 |
78 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs550519471 | 78 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759638326 | 79 | G>E | No |
TOPMed gnomAD |
|
|
CA308106621 rs759638326 |
79 | G>E | No |
ClinGen TOPMed gnomAD |
|
| rs1392108373 | 79 | G>R | No | TOPMed | |
|
CA405702277 rs1392108373 |
79 | G>R | No |
ClinGen TOPMed |
|
|
CA405701762 rs1455593909 |
90 | C>F | No |
ClinGen TOPMed |
|
| rs1455593909 | 90 | C>F | No | TOPMed | |
| rs906062240 | 91 | M>T | No | TOPMed | |
|
CA308105828 rs906062240 |
91 | M>T | No |
ClinGen TOPMed |
|
|
rs1376391991 CA405701724 |
93 | F>I | No |
ClinGen TOPMed gnomAD |
|
| rs1376391991 | 93 | F>I | No |
TOPMed gnomAD |
|
| rs1427280570 | 95 | G>R | No | gnomAD | |
|
rs1427280570 CA405701691 |
95 | G>R | No |
ClinGen gnomAD |
|
| rs747524504 | 98 | S>A | No |
ExAC gnomAD |
|
|
CA9416762 rs747524504 |
98 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA9416761 rs773521047 |
104 | Q>* | No |
ClinGen ExAC gnomAD |
|
| rs773521047 | 104 | Q>* | No |
ExAC gnomAD |
|
|
rs748687009 CA9416741 |
107 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs748687009 | 107 | G>V | No |
ExAC gnomAD |
|
| rs774924542 | 108 | S>C | No |
ExAC gnomAD |
|
|
CA9416740 rs774924542 |
108 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA308104661 rs923037670 |
109 | L>V | No |
ClinGen Ensembl |
|
| rs923037670 | 109 | L>V | No | Ensembl | |
|
CA405701286 rs1568642890 |
117 | V>I | No |
ClinGen Ensembl |
|
| rs1568642890 | 117 | V>I | No | Ensembl | |
| rs757141331 | 119 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs757141331 CA405701239 |
119 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757141331 CA9416736 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs757141331 | 119 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
CA405701244 rs1157188443 |
119 | R>W | No |
ClinGen gnomAD |
|
| rs1157188443 | 119 | R>W | No | gnomAD | |
|
CA9416735 rs746830176 |
120 | E>D | No |
ClinGen ExAC gnomAD |
|
| rs746830176 | 120 | E>D | No |
ExAC gnomAD |
|
|
CA9416734 rs371189923 |
121 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| rs371189923 | 121 | V>M | No |
ESP ExAC gnomAD |
|
|
rs267605465 CA308104462 |
124 | G>R | No |
ClinGen Ensembl |
|
| rs267605465 | 124 | G>R | No | Ensembl | |
|
rs776260644 CA9416718 |
127 | Y>C | No |
ClinGen ExAC gnomAD |
|
| rs776260644 | 127 | Y>C | No |
ExAC gnomAD |
|
| rs770745646 | 130 | S>P | No | ExAC | |
|
CA9416717 rs770745646 |
130 | S>P | No |
ClinGen ExAC |
|
|
rs1336604591 CA405700315 |
134 | I>T | No |
ClinGen gnomAD |
|
| rs1336604591 | 134 | I>T | No | gnomAD | |
|
CA308104293 rs868356768 |
140 | G>R | No |
ClinGen Ensembl |
|
| rs868356768 | 140 | G>R | No | Ensembl | |
|
rs1371255515 CA405700160 |
143 | I>V | No |
ClinGen gnomAD |
|
| rs1371255515 | 143 | I>V | No | gnomAD | |
|
CA9416695 rs377523520 |
146 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs377523520 | 146 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs768384289 CA9416676 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs768384289 | 158 | I>V | No |
ExAC gnomAD |
|
|
CA9416674 rs775369664 |
162 | I>T | No |
ClinGen ExAC gnomAD |
|
| rs775369664 | 162 | I>T | No |
ExAC gnomAD |
|
| rs1255076275 | 162 | I>V | No | gnomAD | |
|
CA405699572 rs1255076275 |
162 | I>V | No |
ClinGen gnomAD |
|
|
rs1309678682 COSM3404200 CA405699355 |
169 | R>C | central_nervous_system urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| rs1309678682 | 169 | R>C | No |
TOPMed gnomAD |
|
|
CA9416673 rs769786941 |
169 | R>H | No |
ClinGen ExAC gnomAD |
|
| rs769786941 | 169 | R>H | No |
ExAC gnomAD |
|
| rs1309678682 | 169 | R>S | No |
TOPMed gnomAD |
|
|
rs1309678682 CA405699364 |
169 | R>S | No |
ClinGen TOPMed gnomAD |
|
| rs1350414661 | 173 | I>T | No |
TOPMed gnomAD |
|
|
CA405699178 rs1350414661 |
173 | I>T | No |
ClinGen TOPMed gnomAD |
|
| rs1309284493 | 185 | A>G | No | gnomAD | |
|
rs1309284493 CA405698469 |
185 | A>G | No |
ClinGen gnomAD |
|
|
CA9416642 rs751238598 |
187 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs751238598 | 187 | A>V | No |
ExAC gnomAD |
|
| rs1389940193 | 193 | N>K | No | gnomAD | |
|
CA405698329 rs1389940193 |
193 | N>K | No |
ClinGen gnomAD |
|
|
rs17847696 CA9416633 |
204 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs17847696 | 204 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA308103424 rs886102097 |
206 | I>V | No |
ClinGen TOPMed |
|
| rs886102097 | 206 | I>V | No | TOPMed | |
|
CA405698095 rs1267299952 COSM275983 |
207 | E>K | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1267299952 | 207 | E>K | No | gnomAD | |
|
CA405698032 rs1275508777 |
209 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1275508777 | 209 | A>V | No |
TOPMed gnomAD |
|
| rs370568911 | 210 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
|
rs370568911 CA308103398 |
210 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs370568911 | 210 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
|
rs370568911 CA9416628 |
210 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs370568911 | 210 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs370568911 CA405698024 |
210 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405697914 rs1179850942 |
214 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1179850942 | 214 | P>Q | No |
TOPMed gnomAD |
|
|
rs780380053 CA9416627 |
214 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs780380053 | 214 | P>S | No |
ExAC gnomAD |
|
| rs751111540 | 217 | D>E | No |
ExAC gnomAD |
|
|
CA9416625 rs751111540 |
217 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1393114136 CA405697794 |
218 | V>A | No |
ClinGen gnomAD |
|
| rs1393114136 | 218 | V>A | No | gnomAD | |
| rs758107213 | 220 | P>A | No |
ExAC gnomAD |
|
|
CA9416623 rs758107213 |
220 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1396526530 CA405697766 |
220 | P>R | No |
ClinGen gnomAD |
|
| rs1396526530 | 220 | P>R | No | gnomAD | |
|
rs770353563 CA9416608 |
223 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs770353563 | 223 | V>I | No |
ExAC gnomAD |
|
|
CA9416606 rs777280626 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs777280626 | 226 | L>F | No |
ExAC gnomAD |
|
| rs1381228367 | 230 | S>N | No | gnomAD | |
|
CA405696041 rs1381228367 |
230 | S>N | No |
ClinGen gnomAD |
|
| rs778379498 | 232 | Y>* | No |
ExAC gnomAD |
|
|
rs778379498 CA9416603 |
232 | Y>* | No |
ClinGen ExAC gnomAD |
|
| rs1446648041 | 232 | Y>C | No | gnomAD | |
|
rs1446648041 CA405695949 |
232 | Y>C | No |
ClinGen gnomAD |
|
| rs1446648041 | 232 | Y>S | No | gnomAD | |
|
rs1446648041 CA405695931 |
232 | Y>S | No |
ClinGen gnomAD |
|
|
rs754637464 CA308102555 |
234 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754637464 | 234 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs754637464 | 234 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs754637464 CA9416602 |
234 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389889073 COSM1681007 CA405695826 |
235 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1389889073 | 235 | P>L | No | gnomAD | |
|
rs766268688 CA9416600 |
236 | R>G | No |
ClinGen ExAC gnomAD |
|
| rs766268688 | 236 | R>G | No |
ExAC gnomAD |
|
| rs1456166061 | 236 | R>P | No | gnomAD | |
|
CA405695812 rs1456166061 |
236 | R>P | No |
ClinGen gnomAD |
|
| rs368831252 | 237 | L>M | No |
ESP ExAC gnomAD |
|
|
CA9416599 rs368831252 |
237 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA405695724 rs1472473788 |
239 | E>D | No |
ClinGen gnomAD |
|
| rs1472473788 | 239 | E>D | No | gnomAD | |
| rs374958550 | 239 | E>Q | No |
ESP ExAC gnomAD |
|
|
CA9416597 rs374958550 |
239 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
| rs1198038848 | 244 | S>L | No | gnomAD | |
|
CA405695295 rs1198038848 |
244 | S>L | No |
ClinGen gnomAD |
|
|
rs931070239 CA308102454 |
246 | A>S | No |
ClinGen TOPMed gnomAD |
|
| rs931070239 | 246 | A>S | No |
TOPMed gnomAD |
|
|
CA9416577 rs751657105 |
248 | H>Y | No |
ClinGen ExAC gnomAD |
|
| rs751657105 | 248 | H>Y | No |
ExAC gnomAD |
|
|
rs763099650 CA9416575 |
249 | N>S | No |
ClinGen ExAC gnomAD |
|
| rs763099650 | 249 | N>S | No |
ExAC gnomAD |
|
|
rs759842138 CA9416572 |
254 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs759842138 | 254 | T>I | No |
ExAC gnomAD |
|
| rs765618620 | 254 | T>S | No |
ExAC gnomAD |
|
|
CA9416573 rs765618620 |
254 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9416570 rs771377929 |
258 | S>N | No |
ClinGen ExAC gnomAD |
|
| rs771377929 | 258 | S>N | No |
ExAC gnomAD |
|
|
rs1364241468 CA405694863 |
259 | P>H | No |
ClinGen gnomAD |
|
| rs1364241468 | 259 | P>H | No | gnomAD | |
| rs73552638 | 262 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3422776 CA405694761 rs73552638 |
262 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1430412848 | 264 | S>N | No | gnomAD | |
|
CA405694690 rs1430412848 |
264 | S>N | No |
ClinGen gnomAD |
|
| rs754154809 | 264 | S>R | No |
ExAC gnomAD |
|
|
rs754154809 CA405694682 |
264 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA308102400 rs1039548694 |
265 | A>T | No |
ClinGen TOPMed |
|
| rs1039548694 | 265 | A>T | No | TOPMed | |
| rs768152316 | 268 | M>I | No |
ExAC gnomAD |
|
|
rs768152316 CA9416567 |
268 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs943890508 CA308102387 |
270 | S>R | No |
ClinGen Ensembl |
|
| rs943890508 | 270 | S>R | No | Ensembl | |
| rs1378739064 | 273 | L>R | No | gnomAD | |
|
CA405693309 rs1378739064 |
273 | L>R | No |
ClinGen gnomAD |
|
|
rs768075136 CA9416545 |
273 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs768075136 | 273 | L>V | No |
ExAC gnomAD |
|
| rs762602686 | 274 | V>I | No |
ExAC gnomAD |
|
|
CA9416544 rs762602686 |
274 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9416543 rs775110723 |
277 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs775110723 | 277 | P>S | No |
ExAC gnomAD |
|
|
CA9416542 rs769637657 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs769637657 | 278 | G>R | No |
ExAC gnomAD |
|
| rs949451324 | 280 | N>S | No | Ensembl | |
|
rs949451324 CA308101882 |
280 | N>S | No |
ClinGen Ensembl |
|
|
CA405693027 COSM162375 rs745506984 |
281 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| rs745506984 | 281 | R>* | No |
ExAC TOPMed gnomAD |
|
|
rs146342040 CA9416539 |
281 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs146342040 | 281 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs146342040 CA9416538 |
281 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs146342040 | 281 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746952948 | 282 | G>D | No |
ExAC gnomAD |
|
|
rs746952948 CA9416536 |
282 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs777714523 CA9416535 |
283 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs777714523 | 283 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs758305822 | 289 | D>E | No |
ExAC TOPMed gnomAD |
|
|
rs758305822 CA9416534 |
289 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs778955212 | 294 | P>L | No |
ExAC TOPMed gnomAD |
|
|
CA9416532 rs778955212 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752811174 CA9416533 |
294 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs752811174 | 294 | P>S | No |
ExAC gnomAD |
|
|
rs374968186 COSM996097 CA9416530 |
295 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| rs374968186 | 295 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1322359494 | 297 | G>R | No |
TOPMed gnomAD |
|
|
CA405692581 COSM3692727 rs1322359494 |
297 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs768111144 CA9416526 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs768111144 | 298 | P>S | No |
ExAC gnomAD |
|
|
CA9416524 rs200338471 |
300 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200338471 | 300 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143567056 | 302 | D>H | No |
1000Genomes ExAC gnomAD |
|
|
rs143567056 CA9416523 |
302 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs964275695 | 303 | I>T | No |
TOPMed gnomAD |
|
|
rs964275695 CA308101839 |
303 | I>T | No |
ClinGen TOPMed gnomAD |
|
| rs911510082 | 304 | E>K | No | Ensembl | |
|
rs911510082 CA308101838 |
304 | E>K | No |
ClinGen Ensembl |
|
|
rs1437711338 CA405692296 |
306 | E>V | No |
ClinGen TOPMed |
|
| rs1437711338 | 306 | E>V | No | TOPMed | |
|
CA9416517 rs528439074 |
309 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs528439074 | 309 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs528439074 | 309 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs528439074 CA9416518 |
309 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486871110 CA405692032 |
310 | L>Q | No |
ClinGen TOPMed |
|
| rs1486871110 | 310 | L>Q | No | TOPMed | |
|
rs768744321 CA9416496 |
311 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs768744321 | 311 | P>S | No |
ExAC gnomAD |
|
|
CA405691996 rs55924696 |
312 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs55924696 | 312 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs55924696 | 312 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55924696 VAR_040739 CA9416495 |
312 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs987467691 | 315 | P>L | No | Ensembl | |
|
rs987467691 CA308101616 |
315 | P>L | No |
ClinGen Ensembl |
|
| rs779995447 | 315 | P>S | No |
ExAC gnomAD |
|
|
CA9416494 rs779995447 |
315 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs746020552 | 316 | R>Q | No |
ExAC gnomAD |
|
|
rs746020552 CA9416492 |
316 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202069778 CA9416491 |
317 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs202069778 | 317 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1599714876 | 321 | T>P | No | Ensembl | |
|
CA405691760 rs1599714876 |
321 | T>P | No |
ClinGen Ensembl |
|
| rs752137254 | 323 | R>C | No |
ExAC gnomAD |
|
|
rs752137254 CA9416489 |
323 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA405691669 rs1453630190 |
323 | R>H | No |
ClinGen TOPMed |
|
| rs1453630190 | 323 | R>H | No | TOPMed | |
|
CA405691629 rs1174687325 |
325 | S>G | No |
ClinGen TOPMed gnomAD |
|
| rs1174687325 | 325 | S>G | No |
TOPMed gnomAD |
|
|
rs778470265 CA9416488 |
325 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs778470265 | 325 | S>R | No |
ExAC gnomAD |
|
|
CA9416487 rs369421249 |
326 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs369421249 | 326 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1429228668 CA405691570 |
326 | S>T | No |
ClinGen gnomAD |
|
| rs1429228668 | 326 | S>T | No | gnomAD | |
| rs1473840764 | 328 | G>R | No | gnomAD | |
|
CA405691537 rs1473840764 |
328 | G>R | No |
ClinGen gnomAD |
|
|
rs1252692541 CA405691455 |
330 | P>T | No |
ClinGen gnomAD |
|
| rs1252692541 | 330 | P>T | No | gnomAD | |
|
CA9416486 rs753450758 |
331 | D>A | No |
ClinGen ExAC gnomAD |
|
| rs753450758 | 331 | D>A | No |
ExAC gnomAD |
|
| rs1450980294 | 332 | A>T | No | TOPMed | |
|
rs1450980294 CA405691404 |
332 | A>T | No |
ClinGen TOPMed |
|
|
CA405691323 rs1417682119 |
333 | D>A | No |
ClinGen gnomAD |
|
| rs1417682119 | 333 | D>A | No | gnomAD | |
| rs200072358 | 333 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9416485 rs200072358 |
333 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201445184 CA9416483 |
334 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs201445184 | 334 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1442688271 | 335 | C>Y | No | TOPMed | |
|
CA405691227 rs1442688271 |
335 | C>Y | No |
ClinGen TOPMed |
|
|
rs200315332 CA9416482 |
336 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs200315332 | 336 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs868330468 | 337 | R>Q | No |
TOPMed gnomAD |
|
|
rs868330468 COSM3797043 CA308100251 |
337 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9416469 rs138670494 |
337 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs138670494 | 337 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs1284243239 | 338 | H>Q | No | gnomAD | |
|
CA405689866 rs1284243239 |
338 | H>Q | No |
ClinGen gnomAD |
|
| rs1357802177 | 338 | H>Y | No |
TOPMed gnomAD |
|
|
rs1357802177 CA405689877 |
338 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| rs1345566291 | 339 | M>I | No | gnomAD | |
|
CA405689852 rs1345566291 |
339 | M>I | No |
ClinGen gnomAD |
|
| rs779620297 | 339 | M>V | No |
ExAC TOPMed gnomAD |
|
|
rs779620297 CA9416468 |
339 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1335144403 | 345 | R>* | No | gnomAD | |
|
rs1335144403 CA405689685 |
345 | R>* | No |
ClinGen gnomAD |
|
| rs556360025 | 345 | R>Q | No |
TOPMed gnomAD |
|
|
rs556360025 CA308100239 |
345 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA308100226 rs1028046269 |
346 | G>E | No |
ClinGen TOPMed |
|
| rs1028046269 | 346 | G>E | No | TOPMed | |
|
rs1398003057 CA405689647 |
347 | M>L | No |
ClinGen gnomAD |
|
| rs1398003057 | 347 | M>L | No | gnomAD | |
| rs377640411 | 347 | M>T | No | Ensembl | |
|
CA308100224 rs377640411 |
347 | M>T | No |
ClinGen Ensembl |
|
| rs375600688 | 348 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
|
CA9416467 rs375600688 |
348 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371383209 CA9416465 |
349 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs371383209 | 349 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1599713252 | 350 | R>S | No | Ensembl | |
|
rs1599713252 CA405689579 |
350 | R>S | No |
ClinGen Ensembl |
|
|
rs1416113409 CA405689584 |
350 | R>T | No |
ClinGen gnomAD |
|
| rs1416113409 | 350 | R>T | No | gnomAD | |
| rs34591617 | 351 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_040740 rs34591617 CA9416464 |
351 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA308100167 rs373863577 |
355 | T>A | No |
ClinGen ESP gnomAD |
|
| rs373863577 | 355 | T>A | No |
ESP gnomAD |
|
| rs751146640 | 356 | A>P | No |
ExAC TOPMed gnomAD |
|
|
CA9416443 rs751146640 |
356 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405689321 rs751146640 |
356 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751146640 | 356 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs763984117 | 357 | R>C | No |
ExAC TOPMed gnomAD |
|
|
CA9416442 rs763984117 |
357 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs529903264 | 357 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs529903264 CA9416441 |
357 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs529903264 | 357 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs529903264 CA405689297 |
357 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765130224 CA9416439 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
| rs765130224 | 359 | Q>H | No |
ExAC gnomAD |
|
|
rs56060067 VAR_040741 CA9416438 |
361 | P>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs56060067 | 361 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs776905686 | 362 | R>* | No |
ExAC TOPMed gnomAD |
|
|
rs776905686 CA9416437 |
362 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776905686 CA405689204 |
362 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs776905686 | 362 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs759106165 | 362 | R>Q | No |
TOPMed gnomAD |
|
|
COSM439429 CA308099965 rs759106165 |
362 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1272827230 CA405689172 |
364 | L>I | No |
ClinGen gnomAD |
|
| rs1272827230 | 364 | L>I | No | gnomAD | |
|
rs766504691 CA9416436 |
365 | R>K | No |
ClinGen ExAC gnomAD |
|
| rs766504691 | 365 | R>K | No |
ExAC gnomAD |
|
|
rs949917797 CA308099947 |
366 | S>N | No |
ClinGen TOPMed |
|
| rs949917797 | 366 | S>N | No | TOPMed | |
|
CA405689127 rs949917797 |
366 | S>T | No |
ClinGen TOPMed |
|
| rs949917797 | 366 | S>T | No | TOPMed | |
| rs760978759 | 368 | S>N | No |
ExAC TOPMed gnomAD |
|
|
CA9416435 rs760978759 |
368 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1599712916 | 369 | P>H | No | Ensembl | |
|
rs1599712916 CA405689046 |
369 | P>H | No |
ClinGen Ensembl |
|
|
rs1309914050 CA405689033 |
370 | R>G | No |
ClinGen gnomAD |
|
| rs1309914050 | 370 | R>G | No | gnomAD | |
| rs568136374 | 376 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs568136374 CA9416420 |
376 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs920615299 | 376 | S>P | No |
TOPMed gnomAD |
|
|
rs920615299 CA308099825 |
376 | S>P | No |
ClinGen TOPMed gnomAD |
|
| rs1159211537 | 379 | D>N | No |
TOPMed gnomAD |
|
|
CA405688593 rs1159211537 |
379 | D>N | No |
ClinGen TOPMed gnomAD |
|
| rs201062654 | 380 | D>H | No |
ExAC TOPMed gnomAD |
|
|
CA9416418 rs201062654 |
380 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs201062654 | 380 | D>N | No |
ExAC TOPMed gnomAD |
|
|
rs201062654 CA405688533 |
380 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248019967 CA405688483 |
381 | Y>H | No |
ClinGen gnomAD |
|
| rs1248019967 | 381 | Y>H | No | gnomAD | |
| rs1461472368 | 383 | D>N | No | gnomAD | |
|
CA405688423 rs1461472368 |
383 | D>N | No |
ClinGen gnomAD |
|
|
CA405688026 rs1183383947 |
386 | I>M | No |
ClinGen gnomAD |
|
| rs1183383947 | 386 | I>M | No | gnomAD | |
| rs1215761980 | 389 | P>L | No | TOPMed | |
|
CA405687967 rs1215761980 |
389 | P>L | No |
ClinGen TOPMed |
|
|
CA308098771 rs1004783341 |
389 | P>S | No |
ClinGen TOPMed |
|
| rs1004783341 | 389 | P>S | No | TOPMed | |
| rs754776316 | 391 | E>K | No |
ExAC TOPMed gnomAD |
|
|
rs754776316 CA9416400 |
391 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1197525781 | 394 | P>A | No | TOPMed | |
|
rs1197525781 CA405687843 |
394 | P>A | No |
ClinGen TOPMed |
|
|
rs780189338 CA9416398 |
400 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs780189338 | 400 | K>R | No |
ExAC gnomAD |
|
|
rs1344372115 CA405686666 |
401 | P>S | No |
ClinGen gnomAD |
|
| rs1344372115 | 401 | P>S | No | gnomAD | |
|
rs1599710395 CA405686616 |
403 | F>V | No |
ClinGen Ensembl |
|
| rs1599710395 | 403 | F>V | No | Ensembl | |
| rs532444210 | 404 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9416375 rs532444210 |
404 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751573142 CA9416373 |
404 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751573142 | 404 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs532444210 | 404 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9416374 rs532444210 |
404 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs764343376 | 405 | S>F | No |
ExAC TOPMed gnomAD |
|
|
rs764343376 CA9416372 |
405 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs763162129 | 406 | P>A | No |
ExAC gnomAD |
|
|
rs763162129 CA9416371 |
406 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760256139 CA9416369 |
409 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs760256139 | 409 | E>K | No |
ExAC gnomAD |
|
|
CA9416368 rs759960495 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs759960495 | 411 | P>S | No |
ExAC gnomAD |
|
| rs549555400 | 412 | G>E | No |
1000Genomes ExAC |
|
|
CA9416367 rs549555400 |
412 | G>E | No |
ClinGen 1000Genomes ExAC |
|
| rs1197358011 | 412 | G>R | No | gnomAD | |
|
rs1197358011 CA405686364 |
412 | G>R | No |
ClinGen gnomAD |
|
|
rs185429249 CA9416366 |
414 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185429249 | 414 | M>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs959241635 CA308096642 |
414 | M>L | No |
ClinGen gnomAD |
|
| rs959241635 | 414 | M>L | No | gnomAD | |
|
rs185429249 CA9416365 |
414 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185429249 | 414 | M>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs773966167 | 415 | G>R | No |
ExAC gnomAD |
|
|
rs773966167 CA9416364 |
415 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748934050 CA9416362 |
416 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs748934050 | 416 | D>H | No |
ExAC gnomAD |
|
| rs1224105105 | 418 | G>E | No | gnomAD | |
|
rs1224105105 CA405686063 |
418 | G>E | No |
ClinGen gnomAD |
|
|
rs11666305 CA308096619 |
419 | Q>H | No |
ClinGen Ensembl |
|
| rs11666305 | 419 | Q>H | No | Ensembl | |
|
CA9416361 rs775430411 |
419 | Q>K | No |
ClinGen ExAC gnomAD |
|
| rs775430411 | 419 | Q>K | No |
ExAC gnomAD |
|
|
rs769591301 CA9416360 |
421 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs769591301 | 421 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs745816882 | 422 | P>L | No |
ExAC gnomAD |
|
|
rs745816882 CA9416359 |
422 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs1266263571 | 424 | V>M | No | TOPMed | |
|
CA405685906 rs1266263571 |
424 | V>M | No |
ClinGen TOPMed |
|
|
CA9416354 rs752846112 |
427 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs752846112 | 427 | R>L | No |
ExAC TOPMed gnomAD |
|
|
CA9416353 rs752846112 |
427 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs752846112 | 427 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
CA9416355 rs369921707 |
427 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs369921707 | 427 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1599710240 | 428 | C>R | No | Ensembl | |
|
rs1599710240 CA405685827 |
428 | C>R | No |
ClinGen Ensembl |
|
|
rs765616669 CA9416352 |
429 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765616669 | 429 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1180206762 | 430 | S>R | No | TOPMed | |
|
CA405685772 rs1180206762 |
430 | S>R | No |
ClinGen TOPMed |
|
|
CA405685642 rs1380228239 |
433 | P>Q | No |
ClinGen TOPMed |
|
| rs1380228239 | 433 | P>Q | No | TOPMed | |
| rs755317509 | 435 | N>S | No |
ExAC gnomAD |
|
|
CA9416351 rs755317509 |
435 | N>S | No |
ClinGen ExAC gnomAD |
|
| rs754129576 | 436 | S>C | No |
ExAC gnomAD |
|
|
CA9416350 rs754129576 |
436 | S>C | No |
ClinGen ExAC gnomAD |
|
| rs754129576 | 436 | S>G | No |
ExAC gnomAD |
|
|
CA405685493 rs754129576 |
436 | S>G | No |
ClinGen ExAC gnomAD |
|
| rs1330220510 | 437 | P>S | No |
TOPMed gnomAD |
|
|
CA405685417 rs1330220510 |
437 | P>S | No |
ClinGen TOPMed gnomAD |
|
| rs542338613 | 438 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9416349 rs542338613 |
438 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs761081944 | 438 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM711572 rs761081944 CA9416348 |
438 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9416347 rs774061852 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs774061852 | 439 | P>L | No |
ExAC gnomAD |
|
| rs1299030066 | 440 | G>E | No | TOPMed | |
|
rs1299030066 CA405685291 |
440 | G>E | No |
ClinGen TOPMed |
|
|
rs1261123808 CA405685250 |
441 | P>L | No |
ClinGen TOPMed gnomAD |
|
| rs1261123808 | 441 | P>L | No |
TOPMed gnomAD |
|
| rs762725533 | 442 | P>S | No |
ExAC TOPMed gnomAD |
|
|
CA9416345 rs762725533 |
442 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs762725533 | 442 | P>T | No |
ExAC TOPMed gnomAD |
|
|
CA9416346 rs762725533 |
442 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1308360121 | 443 | P>S | No | TOPMed | |
|
rs1308360121 CA405685216 |
443 | P>S | No |
ClinGen TOPMed |
|
|
CA405685199 rs1383481713 |
444 | S>P | No |
ClinGen TOPMed |
|
| rs1383481713 | 444 | S>P | No | TOPMed | |
| rs776288730 | 446 | S>N | No |
ExAC TOPMed gnomAD |
|
|
rs776288730 CA9416341 |
446 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1339110845 | 447 | S>N | No | gnomAD | |
|
rs1339110845 CA405685104 |
447 | S>N | No |
ClinGen gnomAD |
|
| rs1406026783 | 448 | P>A | No | gnomAD | |
|
CA405685085 rs1406026783 |
448 | P>A | No |
ClinGen gnomAD |
|
|
CA308096566 rs976391506 |
448 | P>R | No |
ClinGen TOPMed |
|
| rs976391506 | 448 | P>R | No | TOPMed | |
|
rs1252710565 CA405685029 |
449 | H>Q | No |
ClinGen TOPMed |
|
| rs1252710565 | 449 | H>Q | No | TOPMed | |
| rs1041006310 | 449 | H>Y | No |
TOPMed gnomAD |
|
|
rs1041006310 CA308096561 |
449 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs746894970 CA9416339 |
451 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746894970 | 451 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs770963669 | 451 | T>P | No |
ExAC gnomAD |
|
|
rs770963669 CA308096528 |
451 | T>P | No |
ClinGen ExAC gnomAD |
|
| rs770963669 | 451 | T>S | No |
ExAC gnomAD |
|
|
rs746894970 CA405684970 |
451 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746894970 | 451 | T>S | No |
ExAC TOPMed gnomAD |
|
|
CA9416340 rs770963669 |
451 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758428806 CA9416337 |
452 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758428806 | 452 | A>S | No |
ExAC TOPMed gnomAD |
|
|
CA308096522 rs758428806 |
452 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758428806 | 452 | A>T | No |
ExAC TOPMed gnomAD |
|
|
CA308096516 rs1042030777 |
452 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1042030777 | 452 | A>V | No |
TOPMed gnomAD |
|
|
rs1203442933 CA405684787 |
455 | E>G | No |
ClinGen TOPMed |
|
| rs1203442933 | 455 | E>G | No | TOPMed | |
| rs776503726 | 456 | P>R | No |
ExAC TOPMed gnomAD |
|
|
CA9416324 rs776503726 |
456 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1188043585 | 459 | W>C | No | gnomAD | |
|
CA405684703 rs1188043585 |
459 | W>C | No |
ClinGen gnomAD |
|
| rs760633363 | 459 | W>G | No |
ExAC gnomAD |
|
|
CA9416322 rs760633363 |
459 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA405684658 rs1241392156 |
461 | P>L | No |
ClinGen gnomAD |
|
| rs1241392156 | 461 | P>L | No | gnomAD | |
| rs773080303 | 461 | P>S | No |
ExAC gnomAD |
|
|
CA9416321 rs773080303 |
461 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA308096431 rs927799546 |
462 | P>H | No |
ClinGen TOPMed |
|
| rs927799546 | 462 | P>H | No | TOPMed | |
|
CA405684616 rs1490686646 |
463 | S>P | No |
ClinGen gnomAD |
|
| rs1490686646 | 463 | S>P | No | gnomAD | |
| rs748266439 | 464 | R>Q | No |
ExAC gnomAD |
|
|
rs748266439 CA9416318 |
464 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405684596 rs1421857461 |
464 | R>W | No |
ClinGen TOPMed |
|
| rs1421857461 | 464 | R>W | No | TOPMed | |
| rs1288168621 | 468 | K>R | No | gnomAD | |
|
CA405684386 rs1288168621 |
468 | K>R | No |
ClinGen gnomAD |
|
| rs749412597 | 469 | P>A | No |
ExAC gnomAD |
|
|
rs749412597 CA9416316 |
469 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs749412597 | 469 | P>S | No |
ExAC gnomAD |
|
|
CA9416315 rs749412597 |
469 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs780499092 | 473 | P>T | No |
ExAC gnomAD |
|
|
rs780499092 CA9416314 |
473 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs374788994 CA405684244 |
474 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs374788994 | 474 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
|
rs374788994 CA405684252 |
474 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs374788994 | 474 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs374788994 CA9416313 |
474 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs374788994 | 474 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1347520771 | 474 | P>T | No | gnomAD | |
|
rs1347520771 CA405684255 |
474 | P>T | No |
ClinGen gnomAD |
|
|
rs1348290739 CA405684190 |
476 | K>R | No |
ClinGen gnomAD |
|
| rs1348290739 | 476 | K>R | No | gnomAD | |
| rs1172289324 | 478 | K>N | No | gnomAD | |
|
rs1172289324 CA405684060 COSM337545 |
478 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1410277080 | 480 | K>E | No | gnomAD | |
|
rs1410277080 CA405684032 |
480 | K>E | No |
ClinGen gnomAD |
|
| rs1418756111 | 480 | K>N | No | gnomAD | |
|
rs1418756111 CA405684011 |
480 | K>N | No |
ClinGen gnomAD |
|
| rs1224605542 | 484 | C>Y | No | gnomAD | |
|
rs1224605542 CA405680611 |
484 | C>Y | No |
ClinGen gnomAD |
|
| rs780188843 | 485 | A>S | No |
ExAC TOPMed gnomAD |
|
|
CA9416295 rs780188843 |
485 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770111809 CA9416294 |
485 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs770111809 | 485 | A>V | No |
ExAC gnomAD |
|
|
rs781682486 CA9416292 |
488 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781682486 | 488 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1346512508 | 491 | F>I | No | gnomAD | |
|
rs1346512508 CA405680375 |
491 | F>I | No |
ClinGen gnomAD |
|
|
CA405680223 rs1378037173 |
496 | L>V | No |
ClinGen gnomAD |
|
| rs1378037173 | 496 | L>V | No | gnomAD | |
| rs753362748 | 497 | R>Q | No |
ExAC gnomAD |
|
|
CA9416286 rs753362748 |
497 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754393476 CA9416287 |
497 | R>W | No |
ClinGen ExAC gnomAD |
|
| rs754393476 | 497 | R>W | No |
ExAC gnomAD |
|
|
CA405680136 rs1482557565 |
498 | I>N | No |
ClinGen gnomAD |
|
| rs1482557565 | 498 | I>N | No | gnomAD | |
|
CA9416284 rs760314138 |
501 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs760314138 | 501 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs531344324 | 503 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA405679984 rs531344324 |
503 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs531344324 | 503 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9416281 COSM996093 rs531344324 |
503 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA405679940 rs1360799190 |
504 | W>C | No |
ClinGen TOPMed |
|
| rs1360799190 | 504 | W>C | No | TOPMed | |
|
rs774107820 CA9416280 |
509 | T>A | No |
ClinGen ExAC gnomAD |
|
| rs774107820 | 509 | T>A | No |
ExAC gnomAD |
|
| rs774107820 | 509 | T>P | No |
ExAC gnomAD |
|
|
rs774107820 CA405679787 |
509 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9416279 rs764069938 |
510 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs764069938 | 510 | K>E | No |
ExAC gnomAD |
|
|
CA405679449 rs1160495253 |
512 | Q>E | No |
ClinGen TOPMed |
|
| rs1160495253 | 512 | Q>E | No | TOPMed | |
| rs371563251 | 512 | Q>H | No |
ESP ExAC gnomAD |
|
|
CA9416262 rs371563251 |
512 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
| rs1316519884 | 523 | F>Y | No | gnomAD | |
|
rs1316519884 CA405679150 |
523 | F>Y | No |
ClinGen gnomAD |
|
| rs759871978 | 527 | R>Q | No |
ExAC gnomAD |
|
|
CA9416258 rs759871978 |
527 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs776948466 | 530 | Q>K | No |
ExAC TOPMed gnomAD |
|
|
rs776948466 CA9416257 |
530 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs202155361 | 533 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs202155361 CA9416255 |
533 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs202155361 | 533 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs202155361 CA405679001 |
533 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405678210 rs1285473569 |
539 | P>L | No |
ClinGen TOPMed |
|
| rs1285473569 | 539 | P>L | No | TOPMed | |
| rs1285473569 | 539 | P>R | No | TOPMed | |
|
CA405678213 rs1285473569 |
539 | P>R | No |
ClinGen TOPMed |
|
| rs770505238 | 541 | R>W | No |
ExAC TOPMed gnomAD |
|
|
CA9416229 rs770505238 |
541 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599698834 CA405678020 |
547 | S>A | No |
ClinGen Ensembl |
|
| rs1599698834 | 547 | S>A | No | Ensembl | |
|
rs777464356 CA9416227 |
547 | S>C | No |
ClinGen ExAC gnomAD |
|
| rs777464356 | 547 | S>C | No |
ExAC gnomAD |
|
| rs777464356 | 547 | S>F | No |
ExAC gnomAD |
|
|
CA405678016 rs777464356 |
547 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9416226 rs758166368 |
549 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758166368 | 549 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs531860758 CA9416224 |
551 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs531860758 | 551 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA405677924 rs1188283503 |
552 | L>V | No |
ClinGen TOPMed |
|
| rs1188283503 | 552 | L>V | No | TOPMed | |
| rs867156083 | 560 | P>H | No | Ensembl | |
|
rs867156083 CA308089407 |
560 | P>H | No |
ClinGen Ensembl |
|
| rs771588634 | 560 | P>S | No |
ExAC gnomAD |
|
|
rs771588634 CA9416209 |
560 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405676300 rs1183897860 |
564 | S>C | No |
ClinGen gnomAD |
|
| rs1183897860 | 564 | S>C | No | gnomAD | |
|
rs748019993 CA9416208 |
566 | S>G | No |
ClinGen ExAC gnomAD |
|
| rs748019993 | 566 | S>G | No |
ExAC gnomAD |
|
|
rs1447118714 CA405676065 |
573 | R>Q | No |
ClinGen gnomAD |
|
| rs1447118714 | 573 | R>Q | No | gnomAD | |
|
CA9416207 rs778834269 |
573 | R>W | No |
ClinGen ExAC gnomAD |
|
| rs778834269 | 573 | R>W | No |
ExAC gnomAD |
|
| rs753760604 | 574 | K>* | No |
ExAC gnomAD |
|
|
CA9416205 rs753760604 |
574 | K>* | No |
ClinGen ExAC gnomAD |
|
| rs1227106926 | 575 | E>G | No | TOPMed | |
|
CA405676014 rs1227106926 |
575 | E>G | No |
ClinGen TOPMed |
|
|
CA9416203 rs756169111 |
581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756169111 | 581 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs750447520 | 583 | A>T | No |
ExAC gnomAD |
|
|
rs750447520 CA9416202 COSM1393434 |
583 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs767847545 | 583 | A>V | No |
ExAC TOPMed gnomAD |
|
|
CA9416201 rs767847545 |
583 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1433448151 | 586 | S>N | No | gnomAD | |
|
CA405675701 rs1433448151 |
586 | S>N | No |
ClinGen gnomAD |
|
| rs1341229014 | 586 | S>R | No | gnomAD | |
|
rs1341229014 CA405675682 |
586 | S>R | No |
ClinGen gnomAD |
|
| rs757458750 | 587 | P>S | No |
ExAC gnomAD |
|
|
CA9416200 rs757458750 |
587 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405675591 COSM1129869 rs1398458281 |
589 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1398458281 | 589 | R>H | No | gnomAD | |
| rs898409578 | 592 | A>T | No | TOPMed | |
|
rs898409578 CA308089388 |
592 | A>T | No |
ClinGen TOPMed |
|
|
CA405675301 rs1568625365 |
594 | K>R | No |
ClinGen Ensembl |
|
| rs1568625365 | 594 | K>R | No | Ensembl | |
| rs754048177 | 595 | N>H | No | Ensembl | |
|
CA308089340 rs754048177 |
595 | N>H | No |
ClinGen Ensembl |
|
| rs1429325567 | 596 | M>T | No | gnomAD | |
|
rs1429325567 CA405675236 |
596 | M>T | No |
ClinGen gnomAD |
|
|
CA9416181 rs757473297 |
597 | V>F | No |
ClinGen ExAC gnomAD |
|
| rs757473297 | 597 | V>F | No |
ExAC gnomAD |
|
|
CA9416180 rs751737960 |
601 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751737960 | 601 | I>V | No |
ExAC TOPMed gnomAD |
|
|
CA308089333 rs780320926 |
603 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780320926 | 603 | D>E | No |
ExAC TOPMed gnomAD |
|
|
rs758807987 CA9416178 |
608 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs758807987 | 608 | R>Q | No |
ExAC gnomAD |
|
| rs756496502 | 608 | R>W | No |
TOPMed gnomAD |
|
|
rs756496502 CA308089321 |
608 | R>W | No |
ClinGen TOPMed gnomAD |
|
| rs765844225 | 609 | A>T | No |
ExAC gnomAD |
|
|
CA9416176 rs765844225 |
609 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs1037000199 | 613 | A>V | No | gnomAD | |
|
CA308089249 rs1037000199 |
613 | A>V | No |
ClinGen gnomAD |
|
|
rs1306729544 CA405674633 |
614 | E>K | No |
ClinGen gnomAD |
|
| rs1306729544 | 614 | E>K | No | gnomAD | |
|
rs1005553045 CA308089244 |
615 | G>D | No |
ClinGen Ensembl |
|
| rs1005553045 | 615 | G>D | No | Ensembl | |
| rs1322266387 | 620 | G>D | No | TOPMed | |
|
CA405674447 rs1322266387 |
620 | G>D | No |
ClinGen TOPMed |
|
| rs1403068956 | 620 | G>S | No | TOPMed | |
|
rs1403068956 CA405674453 |
620 | G>S | No |
ClinGen TOPMed |
|
|
rs959306262 CA308089242 |
621 | P>L | No |
ClinGen TOPMed |
|
| rs959306262 | 621 | P>L | No | TOPMed | |
|
rs754262464 CA9416155 |
624 | C>G | No |
ClinGen ExAC gnomAD |
|
| rs754262464 | 624 | C>G | No |
ExAC gnomAD |
|
| rs761459130 | 625 | G>S | No | ExAC | |
|
CA9416153 rs761459130 |
625 | G>S | No |
ClinGen ExAC |
|
| rs762455256 | 629 | T>A | No |
ExAC gnomAD |
|
|
CA9416150 rs762455256 |
629 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA405674043 rs1257450695 |
631 | V>I | No |
ClinGen gnomAD |
|
| rs1257450695 | 631 | V>I | No | gnomAD | |
|
CA9416149 rs775359535 |
635 | Q>P | No |
ClinGen ExAC gnomAD |
|
| rs775359535 | 635 | Q>P | No |
ExAC gnomAD |
|
|
rs1285275585 CA405673792 |
639 | P>S | No |
ClinGen TOPMed |
|
| rs1285275585 | 639 | P>S | No | TOPMed | |
| rs1265361908 | 643 | F>Y | No | gnomAD | |
|
rs1265361908 CA405673640 |
643 | F>Y | No |
ClinGen gnomAD |
|
| rs769434169 | 645 | L>F | No |
ExAC gnomAD |
|
|
rs769434169 CA9416148 |
645 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs1353258417 | 646 | V>A | No | gnomAD | |
|
CA405673578 rs1353258417 |
646 | V>A | No |
ClinGen gnomAD |
|
|
rs1353258417 CA405673564 |
646 | V>G | No |
ClinGen gnomAD |
|
| rs1353258417 | 646 | V>G | No | gnomAD | |
|
rs759042023 CA308089015 |
650 | L>Q | No |
ClinGen gnomAD |
|
| rs759042023 | 650 | L>Q | No | gnomAD | |
|
rs1258597838 CA405673200 |
656 | P>L | No |
ClinGen gnomAD |
|
| rs1258597838 | 656 | P>L | No | gnomAD | |
|
CA405673127 rs1195745230 |
660 | F>L | No |
ClinGen TOPMed gnomAD |
|
| rs1195745230 | 660 | F>L | No |
TOPMed gnomAD |
|
|
CA405673092 rs1276044379 |
661 | A>P | No |
ClinGen gnomAD |
|
| rs1276044379 | 661 | A>P | No | gnomAD | |
| rs1276044379 | 661 | A>S | No | gnomAD | |
|
CA405673086 rs1276044379 |
661 | A>S | No |
ClinGen gnomAD |
|
| rs1056420543 | 664 | T>S | No |
TOPMed gnomAD |
|
|
rs1056420543 CA308089012 |
664 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9416125 rs373602457 |
665 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373602457 CA9416124 |
665 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs373602457 | 665 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs373602457 | 665 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
|
CA405672964 rs1379531162 |
666 | P>T | No |
ClinGen gnomAD |
|
| rs1379531162 | 666 | P>T | No | gnomAD | |
| rs529710837 | 667 | G>D | No |
1000Genomes ExAC gnomAD |
|
|
rs529710837 CA9416123 |
667 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1055868887 CA308089010 |
667 | G>S | No |
ClinGen Ensembl |
|
| rs1055868887 | 667 | G>S | No | Ensembl | |
|
CA9416122 rs529710837 |
667 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs529710837 | 667 | G>V | No |
1000Genomes ExAC gnomAD |
|
|
rs559060424 CA9416121 |
668 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs559060424 | 668 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA405672912 rs1465512058 |
668 | S>P | No |
ClinGen gnomAD |
|
| rs1465512058 | 668 | S>P | No | gnomAD | |
| rs749737435 | 672 | A>S | No | ExAC | |
|
rs749737435 CA9416119 |
672 | A>S | No |
ClinGen ExAC |
|
|
rs1377259610 CA405672762 |
674 | C>Y | No |
ClinGen gnomAD |
|
| rs1377259610 | 674 | C>Y | No | gnomAD | |
| rs1196527837 | 676 | G>S | No | gnomAD | |
|
CA405672725 rs1196527837 |
676 | G>S | No |
ClinGen gnomAD |
|
|
rs780553080 CA9416118 |
679 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780553080 | 679 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1280202393 | 680 | G>E | No | gnomAD | |
|
CA405672613 rs1280202393 |
680 | G>E | No |
ClinGen gnomAD |
|
| rs1456331217 | 680 | G>R | No | gnomAD | |
|
CA405672614 rs1456331217 |
680 | G>R | No |
ClinGen gnomAD |
|
|
rs201235545 CA405672591 |
681 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201235545 | 681 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9416117 rs201235545 |
681 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201235545 | 681 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253915627 CA405672571 |
682 | P>R | No |
ClinGen gnomAD |
|
| rs1253915627 | 682 | P>R | No | gnomAD | |
| rs1388527878 | 682 | P>S | No | Ensembl | |
|
CA405672578 rs1388527878 |
682 | P>S | No |
ClinGen Ensembl |
|
| rs777363311 | 683 | G>E | No |
ExAC gnomAD |
|
|
CA9416115 rs777363311 |
683 | G>E | No |
ClinGen ExAC gnomAD |
|
| rs199735368 | 683 | G>R | No |
1000Genomes ExAC gnomAD |
|
|
rs199735368 CA9416116 |
683 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1446780729 | 687 | L>F | No | gnomAD | |
|
rs1446780729 CA405672461 |
687 | L>F | No |
ClinGen gnomAD |
|
|
rs1599693317 CA405672422 |
688 | F>L | No |
ClinGen Ensembl |
|
| rs1599693317 | 688 | F>L | No | Ensembl | |
|
rs1301191667 CA405672406 |
689 | H>P | No |
ClinGen gnomAD |
|
| rs1301191667 | 689 | H>P | No | gnomAD | |
| rs1336299629 | 689 | H>Y | No | gnomAD | |
|
rs1336299629 CA405672409 |
689 | H>Y | No |
ClinGen gnomAD |
|
|
CA9416114 rs757891988 |
690 | T>S | No |
ClinGen ExAC gnomAD |
|
| rs757891988 | 690 | T>S | No |
ExAC gnomAD |
|
|
CA405672367 rs1401534486 |
691 | V>L | No |
ClinGen gnomAD |
|
| rs1401534486 | 691 | V>L | No | gnomAD | |
| rs1173650765 | 692 | R>P | No | TOPMed | |
|
CA405672326 rs1173650765 |
692 | R>P | No |
ClinGen TOPMed |
|
|
rs376430694 CA308088997 |
694 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
| rs376430694 | 694 | G>S | No |
ESP TOPMed gnomAD |
|
| rs564776236 | 695 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs564776236 CA9416112 |
695 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs564776236 | 695 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA405672236 rs564776236 |
695 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405672174 rs1437807121 |
696 | L>F | No |
ClinGen gnomAD |
|
| rs1437807121 | 696 | L>F | No | gnomAD | |
| rs1239104189 | 698 | C>F | No | gnomAD | |
|
CA405672130 rs1239104189 |
698 | C>F | No |
ClinGen gnomAD |
|
| rs753651363 | 699 | W>* | No |
ExAC gnomAD |
|
|
CA9416110 rs753651363 |
699 | W>* | No |
ClinGen ExAC gnomAD |
|
| rs1423834719 | 699 | W>R | No | gnomAD | |
|
CA405672114 rs1423834719 |
699 | W>R | No |
ClinGen gnomAD |
|
| rs953421440 | 700 | L>M | No |
TOPMed gnomAD |
|
|
rs953421440 CA308088983 |
700 | L>M | No |
ClinGen TOPMed gnomAD |
|
| rs955186939 | 700 | L>P | No |
TOPMed gnomAD |
|
|
rs955186939 CA308088981 |
700 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs575955969 CA9416109 |
702 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs575955969 | 702 | E>K | No |
1000Genomes ExAC gnomAD |
|
|
rs1353968092 CA405671985 |
704 | S>R | No |
ClinGen gnomAD |
|
| rs1353968092 | 704 | S>R | No | gnomAD | |
|
CA405671648 rs1280511127 |
708 | R>K | No |
ClinGen TOPMed |
|
| rs1280511127 | 708 | R>K | No | TOPMed | |
|
CA308088841 rs1035036794 |
708 | R>S | No |
ClinGen gnomAD |
|
| rs1035036794 | 708 | R>S | No | gnomAD | |
|
rs1191077128 CA405671637 |
709 | G>R | No |
ClinGen gnomAD |
|
| rs1191077128 | 709 | G>R | No | gnomAD | |
|
rs1459889560 CA405671493 |
715 | Q>E | No |
ClinGen TOPMed |
|
| rs1459889560 | 715 | Q>E | No | TOPMed | |
| rs1222750540 | 717 | E>A | No | gnomAD | |
|
CA405671440 rs1222750540 |
717 | E>A | No |
ClinGen gnomAD |
|
| rs55922338 | 718 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55922338 CA405671394 |
718 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1046776815 | 719 | D>N | No | TOPMed | |
|
rs1046776815 CA308088817 |
719 | D>N | No |
ClinGen TOPMed |
|
|
rs755955391 CA9416089 |
720 | M>T | No |
ClinGen ExAC gnomAD |
|
| rs755955391 | 720 | M>T | No |
ExAC gnomAD |
|
| rs1568623579 | 725 | M>L | No | Ensembl | |
|
rs1568623579 CA405671236 |
725 | M>L | No |
ClinGen Ensembl |
|
|
CA405670091 rs1432412261 |
728 | S>C | No |
ClinGen gnomAD |
|
| rs1432412261 | 728 | S>C | No | gnomAD | |
| rs763164631 | 734 | P>A | No |
ExAC gnomAD |
|
|
CA9416059 rs763164631 |
734 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs990315025 | 734 | P>L | No | gnomAD | |
|
rs990315025 CA308088661 |
734 | P>L | No |
ClinGen gnomAD |
|
|
rs1180296636 CA405669917 |
737 | S>A | No |
ClinGen TOPMed |
|
| rs1180296636 | 737 | S>A | No | TOPMed | |
| rs1238066548 | 737 | S>F | No |
TOPMed gnomAD |
|
|
VAR_040742 rs1238066548 CA405669879 |
737 | S>F | a metastatic melanoma sample; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
| rs1180296636 | 737 | S>T | No | TOPMed | |
|
rs1180296636 CA405669913 |
737 | S>T | No |
ClinGen TOPMed |
|
| rs1238066548 | 737 | S>Y | No |
TOPMed gnomAD |
|
|
CA405669898 rs1238066548 |
737 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA405669850 rs1281373581 |
739 | V>A | No |
ClinGen gnomAD |
|
| rs1281373581 | 739 | V>A | No | gnomAD | |
|
CA405669856 rs1458531313 |
739 | V>L | No |
ClinGen TOPMed |
|
| rs1458531313 | 739 | V>L | No | TOPMed | |
| rs1484809303 | 740 | R>W | No | gnomAD | |
|
COSM188807 rs1484809303 CA405669834 |
740 | R>W | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765610852 CA9416057 |
741 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs765610852 | 741 | G>V | No |
ExAC gnomAD |
|
| rs959103246 | 743 | R>C | No | gnomAD | |
|
rs959103246 CA308088656 |
743 | R>C | No |
ClinGen gnomAD |
|
|
CA405669750 rs1352944720 |
743 | R>H | No |
ClinGen gnomAD |
|
| rs1352944720 | 743 | R>H | No | gnomAD | |
| rs959103246 | 743 | R>S | No | gnomAD | |
|
rs959103246 CA405669767 |
743 | R>S | No |
ClinGen gnomAD |
|
|
CA308088642 rs1034537652 |
744 | T>K | No |
ClinGen Ensembl |
|
| rs1034537652 | 744 | T>K | No | Ensembl | |
|
rs1229906921 CA405669734 |
745 | P>S | No |
ClinGen gnomAD |
|
| rs1229906921 | 745 | P>S | No | gnomAD | |
| rs1301753218 | 746 | E>* | No | gnomAD | |
|
CA405669723 rs1301753218 |
746 | E>* | No |
ClinGen gnomAD |
|
| rs759770171 | 746 | E>A | No |
ExAC gnomAD |
|
|
CA9416056 rs759770171 |
746 | E>A | No |
ClinGen ExAC gnomAD |
|
| rs1599692019 | 747 | I>S | No | Ensembl | |
|
CA405669690 rs1599692019 |
747 | I>S | No |
ClinGen Ensembl |
|
| rs1363985471 | 752 | A>T | No | TOPMed | |
|
CA405669559 rs1363985471 |
752 | A>T | No |
ClinGen TOPMed |
|
| rs1201518762 | 758 | M>I | No | gnomAD | |
|
rs1201518762 CA405669288 |
758 | M>I | No |
ClinGen gnomAD |
|
|
rs374399873 CA9416038 |
758 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs374399873 | 758 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1350948867 | 759 | V>A | No | gnomAD | |
|
CA405669249 rs1350948867 |
759 | V>A | No |
ClinGen gnomAD |
|
|
rs1424436014 CA405669225 |
760 | G>A | No |
ClinGen TOPMed |
|
| rs1424436014 | 760 | G>A | No | TOPMed | |
| rs1185446446 | 765 | A>G | No | TOPMed | |
|
rs1185446446 CA405669062 |
765 | A>G | No |
ClinGen TOPMed |
|
| rs759712811 | 771 | V>M | No |
ExAC gnomAD |
|
|
rs759712811 CA9416036 |
771 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs1428142264 | 772 | Q>H | No | gnomAD | |
|
rs1428142264 CA405668854 |
772 | Q>H | No |
ClinGen gnomAD |
|
| rs1039800846 | 777 | G>D | No |
TOPMed gnomAD |
|
|
CA308088611 rs1039800846 |
777 | G>D | No |
ClinGen TOPMed gnomAD |
|
| rs1259474373 | 777 | G>S | No | gnomAD | |
|
rs1259474373 CA405668729 |
777 | G>S | No |
ClinGen gnomAD |
|
| rs773563151 | 779 | D>G | No |
ExAC gnomAD |
|
|
rs773563151 CA9416032 |
779 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761144774 CA9416033 |
779 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761144774 | 779 | D>H | No |
ExAC TOPMed gnomAD |
|
|
rs761144774 CA405668668 |
779 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761144774 | 779 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs767803149 | 782 | L>V | No |
ExAC TOPMed gnomAD |
|
|
CA405667749 rs767803149 |
782 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308087654 rs1030494861 |
785 | L>M | No |
ClinGen TOPMed |
|
| rs1030494861 | 785 | L>M | No | TOPMed | |
| rs1161816930 | 786 | R>T | No | Ensembl | |
|
CA405667722 rs1161816930 |
786 | R>T | No |
ClinGen Ensembl |
|
| rs1171508116 | 787 | D>E | No |
TOPMed gnomAD |
|
|
CA405667712 rs1171508116 |
787 | D>E | No |
ClinGen TOPMed gnomAD |
|
| rs1394321403 | 787 | D>H | No |
TOPMed gnomAD |
|
|
rs1394321403 CA405667718 |
787 | D>H | No |
ClinGen TOPMed gnomAD |
|
| rs372874498 | 789 | T>N | No |
ExAC TOPMed gnomAD |
|
|
CA9416008 rs372874498 |
789 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs759150067 | 791 | T>I | No | ExAC | |
|
CA9416006 rs759150067 |
791 | T>I | No |
ClinGen ExAC |
|
| rs1435588834 | 792 | F>L | No | gnomAD | |
|
CA405666700 rs1435588834 |
792 | F>L | No |
ClinGen gnomAD |
|
| rs1257580701 | 793 | R>C | No | gnomAD | |
|
CA405666697 rs1257580701 |
793 | R>C | No |
ClinGen gnomAD |
|
| rs775989879 | 793 | R>H | No |
ExAC TOPMed gnomAD |
|
|
rs775989879 COSM1716131 CA9416005 |
793 | R>H | small_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| rs1333471276 | 797 | S>Y | No | TOPMed | |
|
rs1333471276 CA405666646 |
797 | S>Y | No |
ClinGen TOPMed |
|
|
rs984448548 CA308087635 |
798 | P>A | No |
ClinGen TOPMed |
|
| rs984448548 | 798 | P>A | No | TOPMed | |
| rs951684177 | 798 | P>H | No | TOPMed | |
|
rs951684177 CA308087632 |
798 | P>H | No |
ClinGen TOPMed |
|
| rs1202528085 | 799 | R>S | No |
TOPMed gnomAD |
|
|
CA405697614 rs1202528085 |
799 | R>S | No |
ClinGen TOPMed gnomAD |
|
| rs1599682885 | 802 | C>G | No | Ensembl | |
|
rs1599682885 CA405697565 |
802 | C>G | No |
ClinGen Ensembl |
|
| rs1233942741 | 804 | G>D | No | gnomAD | |
|
rs1233942741 CA405697498 |
804 | G>D | No |
ClinGen gnomAD |
|
| rs1205443820 | 805 | T>A | No | TOPMed | |
|
CA405697483 rs1205443820 |
805 | T>A | No |
ClinGen TOPMed |
|
| rs561008966 | 805 | T>K | No | 1000Genomes | |
|
rs561008966 CA308128527 |
805 | T>K | No |
ClinGen 1000Genomes |
|
| rs1599682829 | 807 | S>A | No | Ensembl | |
|
rs1599682829 CA405697438 |
807 | S>A | No |
ClinGen Ensembl |
|
|
rs542873062 CA9415995 |
807 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs542873062 | 807 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1291686961 | 808 | P>A | No | gnomAD | |
|
CA405697427 rs1291686961 |
808 | P>A | No |
ClinGen gnomAD |
|
| rs1402014127 | 810 | C>R | No | gnomAD | |
|
CA405697368 rs1402014127 |
810 | C>R | No |
ClinGen gnomAD |
|
| rs1326877284 | 811 | N>K | No | gnomAD | |
|
CA405697300 rs1326877284 |
811 | N>K | No |
ClinGen gnomAD |
|
| rs12975825 | 811 | N>S | No | TOPMed | |
|
CA308128522 VAR_051643 rs12975825 |
811 | N>S | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs12975825 CA405697312 |
811 | N>T | No |
ClinGen TOPMed |
|
| rs12975825 | 811 | N>T | No | TOPMed | |
| rs1446411572 | 813 | L>F | No | TOPMed | |
|
rs1446411572 CA405697275 |
813 | L>F | No |
ClinGen TOPMed |
|
| rs1317360810 | 813 | L>R | No |
TOPMed gnomAD |
|
|
rs1317360810 CA405697269 |
813 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405697238 rs1398933816 |
815 | P>L | No |
ClinGen gnomAD |
|
| rs1398933816 | 815 | P>L | No | gnomAD | |
|
rs1193940271 CA405697196 |
818 | S>I | No |
ClinGen TOPMed gnomAD |
|
| rs1193940271 | 818 | S>I | No |
TOPMed gnomAD |
|
| rs1163731480 | 818 | S>R | No | gnomAD | |
|
rs1163731480 CA405697209 |
818 | S>R | No |
ClinGen gnomAD |
|
|
CA405697174 rs1460487376 |
819 | N>D | No |
ClinGen TOPMed gnomAD |
|
| rs1460487376 | 819 | N>D | No |
TOPMed gnomAD |
|
| rs1460487376 | 819 | N>H | No |
TOPMed gnomAD |
|
|
CA405697176 rs1460487376 |
819 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA405697158 rs1414947653 |
819 | N>S | No |
ClinGen TOPMed gnomAD |
|
| rs1414947653 | 819 | N>S | No |
TOPMed gnomAD |
|
|
rs1414947653 CA405697169 |
819 | N>T | No |
ClinGen TOPMed gnomAD |
|
| rs1414947653 | 819 | N>T | No |
TOPMed gnomAD |
|
| rs1270505106 | 820 | S>P | No |
TOPMed gnomAD |
|
|
rs1270505106 CA405697146 |
820 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA405697133 rs1331148497 |
821 | P>S | No |
ClinGen TOPMed |
|
| rs1331148497 | 821 | P>S | No | TOPMed | |
|
CA9415994 rs756363501 |
824 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756363501 | 824 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs750604869 | 826 | R>* | No |
ExAC TOPMed gnomAD |
|
|
rs750604869 CA9415993 |
826 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405697018 rs750604869 |
826 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750604869 | 826 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1243110551 | 826 | R>Q | No | gnomAD | |
|
rs1243110551 CA405696996 |
826 | R>Q | No |
ClinGen gnomAD |
|
|
CA405696993 rs1378448001 |
827 | V>I | No |
ClinGen TOPMed |
|
| rs1378448001 | 827 | V>I | No | TOPMed | |
|
CA405696970 rs1297982281 |
828 | A>S | No |
ClinGen TOPMed |
|
| rs1297982281 | 828 | A>S | No | TOPMed | |
| rs1297982281 | 828 | A>T | No | TOPMed | |
|
CA405696979 rs1297982281 |
828 | A>T | No |
ClinGen TOPMed |
|
| rs996095325 | 829 | G>A | No | gnomAD | |
|
CA308128503 rs996095325 |
829 | G>A | No |
ClinGen gnomAD |
|
| rs899829088 | 830 | I>T | No | Ensembl | |
|
rs899829088 CA308128499 |
830 | I>T | No |
ClinGen Ensembl |
|
|
rs1192889674 CA405696945 |
830 | I>V | No |
ClinGen gnomAD |
|
| rs1192889674 | 830 | I>V | No | gnomAD | |
|
CA405696870 rs1445811208 |
832 | G>R | No |
ClinGen TOPMed gnomAD |
|
| rs1445811208 | 832 | G>R | No |
TOPMed gnomAD |
No associated diseases with Q92918
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR48012 | STERILE20-LIKE KINASE, ISOFORM B-RELATED |
| PANTHER Subfamily | PTHR48012:SF15 | MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1 |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
Apoptosis signaling pathway GCKR Gonadotropin-releasing hormone receptor pathway MAP4Ks Apoptosis signaling pathway GCK |
|
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
5 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 kinase activity | Catalysis of the phosphorylation of serine and threonine residues in a mitogen-activated protein kinase kinase kinase (MAPKKK), resulting in activation of MAPKKK. MAPKKK signaling pathways relay, amplify and integrate signals from the plasma membrane to the nucleus in response to a diverse range of extracellular stimuli. |
| 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. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cellular response to phorbol 13-acetate 12-myristate | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a phorbol 13-acetate 12-myristate stimulus. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK 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). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H2G2 | SLK | STE20-like serine/threonine-protein kinase | Homo sapiens (Human) | PR |
| O94804 | STK10 | Serine/threonine-protein kinase 10 | Homo sapiens (Human) | PR |
| O95747 | OXSR1 | Serine/threonine-protein kinase OSR1 | Homo sapiens (Human) | PR |
| Q9UEW8 | STK39 | STE20/SPS1-related proline-alanine-rich protein kinase | Homo sapiens (Human) | PR |
| Q9Y4K4 | MAP4K5 | Mitogen-activated protein kinase kinase kinase kinase 5 | Homo sapiens (Human) | PR |
| Q12851 | MAP4K2 | Mitogen-activated protein kinase kinase kinase kinase 2 | Homo sapiens (Human) | EV |
| Q8IVH8 | MAP4K3 | Mitogen-activated protein kinase kinase kinase kinase 3 | Homo sapiens (Human) | SS |
| Q9P289 | STK26 | Serine/threonine-protein kinase 26 | Homo sapiens (Human) | PR |
| Q9Y6E0 | STK24 | Serine/threonine-protein kinase 24 | Homo sapiens (Human) | PR |
| O00506 | STK25 | Serine/threonine-protein kinase 25 | Homo sapiens (Human) | PR |
| Q99JP0 | Map4k3 | Mitogen-activated protein kinase kinase kinase kinase 3 | Mus musculus (Mouse) | SS |
| Q61161 | Map4k2 | Mitogen-activated protein kinase kinase kinase kinase 2 | Mus musculus (Mouse) | SS |
| Q8BPM2 | Map4k5 | Mitogen-activated protein kinase kinase kinase kinase 5 | Mus musculus (Mouse) | PR |
| P70218 | Map4k1 | Mitogen-activated protein kinase kinase kinase kinase 1 | Mus musculus (Mouse) | PR |
| Q924I2 | Map4k3 | Mitogen-activated protein kinase kinase kinase kinase 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVVDPDIFN | RDPRDHYDLL | QRLGGGTYGE | VFKARDKVSG | DLVALKMVKM | EPDDDVSTLQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEILILKTCR | HANIVAYHGS | YLWLQKLWIC | MEFCGAGSLQ | DIYQVTGSLS | ELQISYVCRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLQGLAYLHS | QKKIHRDIKG | ANILINDAGE | VRLADFGISA | QIGATLARRL | SFIGTPYWMA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PEVAAVALKG | GYNELCDIWS | LGITAIELAE | LQPPLFDVHP | LRVLFLMTKS | GYQPPRLKEK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GKWSAAFHNF | IKVTLTKSPK | KRPSATKMLS | HQLVSQPGLN | RGLILDLLDK | LKNPGKGPSI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GDIEDEEPEL | PPAIPRRIRS | THRSSSLGIP | DADCCRRHME | FRKLRGMETR | PPANTARLQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PRDLRSSSPR | KQLSESSDDD | YDDVDIPTPA | EDTPPPLPPK | PKFRSPSDEG | PGSMGDDGQL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPGVLVRCAS | GPPPNSPRPG | PPPSTSSPHL | TAHSEPSLWN | PPSRELDKPP | LLPPKKEKMK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RKGCALLVKL | FNGCPLRIHS | TAAWTHPSTK | DQHLLLGAEE | GIFILNRNDQ | EATLEMLFPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RTTWVYSINN | VLMSLSGKTP | HLYSHSILGL | LERKETRAGN | PIAHISPHRL | LARKNMVSTK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IQDTKGCRAC | CVAEGASSGG | PFLCGALETS | VVLLQWYQPM | NKFLLVRQVL | FPLPTPLSVF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ALLTGPGSEL | PAVCIGVSPG | RPGKSVLFHT | VRFGALSCWL | GEMSTEHRGP | VQVTQVEEDM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VMVLMDGSVK | LVTPEGSPVR | GLRTPEIPMT | EAVEAVAMVG | GQLQAFWKHG | VQVWALGSDQ |
| 790 | 800 | 810 | 820 | 830 | |
| LLQELRDPTL | TFRLLGSPRL | ECSGTISPHC | NLLLPGSSNS | PASASRVAGI | TGL |