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 |
1 associated diseases with Q92918
[MIM: 182900]: Spherocytosis 1 (SPH1)
A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. . Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for Q92918
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sodium/calcium exchanger membrane region | 97 - 257 | IPR004837-1 |
| domain | Sodium/calcium exchanger membrane region | 290 - 433 | IPR004837-2 |
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 |