P54762
SS
Gene name |
EPHB1 (ELK, EPHT2, HEK6, NET) |
Protein name |
Ephrin type-B receptor 1 |
Names |
ELK, EPH tyrosine kinase 2, EPH-like kinase 6, EK6, hEK6, Neuronally-expressed EPH-related tyrosine kinase, NET, Tyrosine-protein kinase receptor EPH-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2047 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.
Autoinhibitory domains (AIDs)
Target domain |
619-882 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
761-789 (Activation loop from InterPro)
Target domain |
619-882 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure
Activated structure
9 structures for P54762
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DJS | NMR | - | A | 434-528 | PDB |
| 2EAO | NMR | - | A | 899-984 | PDB |
| 3ZFX | X-ray | 250 A | A/B/C/D/E/F/G/H/I | 602-896 | PDB |
| 5MJA | X-ray | 214 A | A/B | 602-896 | PDB |
| 5MJB | X-ray | 223 A | A/B | 602-896 | PDB |
| 6UMW | X-ray | 198 A | A | 602-896 | PDB |
| 7KPL | X-ray | 271 A | A | 611-889 | PDB |
| 7KPM | X-ray | 161 A | A | 611-889 | PDB |
| AF-P54762-F1 | Predicted | AlphaFoldDB |
691 variants for P54762
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs748387780 CA2629509 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629511 rs773620075 |
6 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84129128 rs972525865 |
7 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1245944825 CA354731746 |
8 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354731762 rs1265377307 |
11 | L>Q | No |
ClinGen gnomAD |
|
|
rs372758942 CA2629516 |
12 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629515 rs372758942 |
12 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629517 rs776344329 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629519 rs765102611 |
13 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2629518 rs200904974 |
13 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354731773 rs758299791 |
14 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758299791 CA2629521 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1559616 CA354731786 COSM1559617 rs1421151199 |
16 | A>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1428579099 CA354731799 |
18 | M>T | No |
ClinGen gnomAD |
|
|
rs55650774 VAR_042165 CA2629523 |
18 | M>V | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376895227 CA2629544 COSM1737268 COSM1737267 |
21 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs777918167 CA2629546 |
24 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773064927 CA2629547 |
27 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84144273 rs867384092 |
28 | A>D | No |
ClinGen Ensembl |
|
|
CA2629549 rs779291109 |
29 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2629550 rs746365113 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1160138360 CA354731922 |
34 | W>* | No |
ClinGen gnomAD |
|
|
CA2629553 COSM1419246 COSM1419247 rs536029159 |
35 | T>M | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs536029159 CA354731929 |
35 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2629555 rs772984614 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1368994484 CA354731934 |
36 | A>V | No |
ClinGen gnomAD |
|
|
rs1578202366 CA354731942 |
37 | N>K | No |
ClinGen Ensembl |
|
|
CA354731940 rs1473173223 |
37 | N>S | No |
ClinGen TOPMed |
|
|
COSM445632 rs556035012 CA2629556 COSM445631 |
39 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs759393707 CA2629559 |
41 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759393707 CA84144274 |
41 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354731960 rs1240367222 |
41 | G>R | No |
ClinGen gnomAD |
|
|
CA354732347 rs1368642874 |
42 | W>C | No |
ClinGen TOPMed |
|
|
rs371726436 CA2629579 |
48 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629581 rs764139128 |
49 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776644483 CA2629582 |
51 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578223786 CA354732409 |
51 | N>T | No |
ClinGen Ensembl |
|
|
rs1578223792 CA354732416 |
52 | L>P | No |
ClinGen Ensembl |
|
|
rs761913036 CA2629583 |
54 | T>A | No |
ClinGen ExAC |
|
|
rs761913036 CA354732426 |
54 | T>P | No |
ClinGen ExAC |
|
|
rs201772314 CA2629584 |
55 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354732439 rs1426484610 |
56 | R>C | No |
ClinGen gnomAD |
|
|
CA354732453 COSM581614 COSM581613 rs1466117759 |
58 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2629585 rs750670511 |
59 | Q>* | No |
ClinGen ExAC |
|
|
COSM581611 CA2629586 rs758676548 COSM581612 |
59 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354732467 rs1578223816 |
60 | V>G | No |
ClinGen Ensembl |
|
|
rs369668524 CA2629588 |
63 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA84147116 rs879536919 |
63 | V>I | No |
ClinGen Ensembl |
|
|
CA2629590 rs748807854 |
65 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748807854 CA2629591 |
65 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756791659 CA2629592 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354732509 rs1559768607 |
67 | N>D | No |
ClinGen Ensembl |
|
|
CA2629593 rs778421975 |
67 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1384091187 CA354732519 |
68 | Q>R | No |
ClinGen gnomAD |
|
|
CA354732524 rs1215211691 |
69 | N>D | No |
ClinGen gnomAD |
|
|
rs771735746 CA2629595 |
75 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84147119 rs894107281 |
75 | T>S | No |
ClinGen TOPMed |
|
|
CA354732579 rs1258501873 |
77 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1258501873 CA354732578 |
77 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM131745 COSM131744 rs775406650 CA2629596 |
79 | R>W | upper_aerodigestive_tract autonomic_ganglia skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354732596 rs373140258 |
80 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559321367 CA354732597 |
80 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2629598 rs559321367 |
80 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2629597 COSM305561 COSM305562 rs373140258 |
80 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1578223919 CA354732609 |
82 | A>G | No |
ClinGen Ensembl |
|
|
rs376332138 CA2629600 |
83 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1303716587 CA354732620 |
84 | R>C | No |
ClinGen TOPMed |
|
|
CA354732622 rs1415689583 |
84 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA354732625 rs1173815598 |
85 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1042794 CA84147120 VAR_011801 |
87 | T>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1397872743 CA354732657 |
89 | M>I | No |
ClinGen gnomAD |
|
|
CA2629601 rs765414344 |
89 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs369940994 CA2629602 |
90 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369940994 CA2629603 |
90 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449079060 COSM1645374 CA354732661 COSM1645373 |
90 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1435620672 CA354732664 |
91 | F>V | No |
ClinGen gnomAD |
|
|
CA354732697 rs1559768728 |
95 | D>E | No |
ClinGen Ensembl |
|
|
rs1236665577 CA354732708 |
97 | S>G | No |
ClinGen gnomAD |
|
|
rs1281301665 CA354732715 |
98 | S>R | No |
ClinGen gnomAD |
|
|
rs1353311326 CA354732719 |
98 | S>T | No |
ClinGen gnomAD |
|
|
CA2629609 rs200637902 |
115 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559768759 CA354732869 |
119 | S>Y | No |
ClinGen Ensembl |
|
|
rs778528771 CA2629610 |
120 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs745488354 CA2629611 |
121 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84147124 rs994098093 |
122 | A>T | No |
ClinGen TOPMed |
|
|
CA354732899 COSM3427115 rs1160115280 COSM3427114 |
124 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1379277361 CA354732893 |
124 | K>Q | No |
ClinGen gnomAD |
|
|
rs758021145 CA2629612 |
124 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354732914 rs1404562506 |
127 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA84147126 rs1011683535 |
128 | F>S | No |
ClinGen Ensembl |
|
|
rs779714154 CA2629613 |
128 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2629615 rs746739761 |
132 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629614 rs746739761 |
132 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629616 rs776535992 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2629618 rs769729442 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354732998 rs1483795809 |
139 | T>I | No |
ClinGen TOPMed |
|
|
rs1339918522 CA354733000 |
140 | I>V | No |
ClinGen gnomAD |
|
|
CA84147128 rs1022112463 |
143 | D>Y | No |
ClinGen Ensembl |
|
|
CA354733040 rs7644369 |
145 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62270337 CA84147130 |
148 | Q>K | No |
ClinGen gnomAD |
|
|
CA354733062 rs1470254946 |
149 | V>M | No |
ClinGen gnomAD |
|
|
CA2629620 rs140725416 |
151 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629622 rs774714501 |
152 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1042793 VAR_011802 CA84147131 |
152 | G>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1578224128 CA354733092 |
153 | G>E | No |
ClinGen Ensembl |
|
|
rs759918802 CA84147132 |
157 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759918802 CA2629623 |
157 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768065537 CA2629624 |
157 | K>R | No |
ClinGen ExAC |
|
|
rs1326814999 CA354733147 |
162 | V>I | No |
ClinGen TOPMed |
|
|
rs1314536148 CA354733186 |
166 | G>R | No |
ClinGen TOPMed |
|
|
COSM122875 CA84147134 rs563780078 COSM122874 |
170 | R>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs563780078 COSM1038713 CA2629629 COSM1038715 |
170 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354733232 rs1330628001 |
170 | R>W | No |
ClinGen gnomAD |
|
|
CA354733241 rs1444676644 |
171 | N>S | No |
ClinGen gnomAD |
|
|
COSM70631 rs781004053 COSM70630 CA2629633 |
176 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748011668 CA2629634 |
178 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA354733344 rs1234364700 |
179 | D>G | No |
ClinGen gnomAD |
|
|
CA354733376 rs1489176037 |
182 | A>G | No |
ClinGen gnomAD |
|
|
CA2629635 rs769719088 |
182 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629636 rs373971290 |
185 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373971290 CA354733405 |
185 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197104045 CA354733418 |
186 | L>F | No |
ClinGen gnomAD |
|
|
CA354733458 rs1441537601 |
190 | R>C | No |
ClinGen gnomAD |
|
|
CA2629638 rs771145808 |
190 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs62270338 CA84147137 |
191 | V>I | No |
ClinGen Ensembl |
|
|
rs1180432163 CA354733481 |
192 | F>S | No |
ClinGen TOPMed |
|
|
rs1369940583 CA354733548 |
197 | P>H | No |
ClinGen gnomAD |
|
|
CA354733551 rs1369940583 |
197 | P>L | No |
ClinGen gnomAD |
|
|
CA354733546 rs1167338010 |
197 | P>S | No |
ClinGen Ensembl |
|
|
rs778514646 CA84147139 |
198 | S>R | No |
ClinGen Ensembl |
|
|
rs774714335 CA2629639 |
199 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA84147140 rs1019594202 |
200 | V>G | No |
ClinGen Ensembl |
|
|
CA2629642 rs775951525 |
200 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1559768997 COSM94210 COSM94209 CA354733637 |
204 | A>S | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA354733644 rs1209249534 |
205 | V>A | No |
ClinGen TOPMed |
|
|
CA84147141 rs764596237 |
205 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764596237 CA2629644 |
205 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1038718 CA354733673 COSM1038716 rs1395624529 |
208 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762511793 CA2629646 |
210 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA354733712 rs1415841767 |
211 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354733734 rs751181388 |
213 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751181388 CA2629648 |
213 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354733733 rs751181388 |
213 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198330489 CA354733797 |
219 | V>L | No |
ClinGen gnomAD |
|
|
COSM260704 COSM260705 rs752494038 CA2629651 |
222 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2629650 rs780843040 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260926130 CA354733835 |
223 | G>D | No |
ClinGen gnomAD |
|
|
rs748010939 CA2629653 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA354733852 rs1354540205 |
225 | C>G | No |
ClinGen TOPMed |
|
|
rs199924359 CA2629655 |
226 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354733893 rs201770786 |
228 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629656 rs779187625 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354733897 COSM1645544 rs1435725610 COSM1645545 |
229 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1055592285 CA84147142 |
232 | V>E | No |
ClinGen TOPMed |
|
|
rs375729027 CA354733952 |
233 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384350519 CA354733961 |
234 | V>G | No |
ClinGen gnomAD |
|
|
CA354733956 rs368276671 |
234 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1038725 CA2629659 COSM1038727 rs368276671 |
234 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs747340696 CA2629661 |
236 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs747340696 CA2629660 |
236 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1578224419 CA354734003 |
238 | L>I | No |
ClinGen Ensembl |
|
|
CA2629664 rs765851482 |
242 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354734094 rs1215605506 |
245 | E>Q | No |
ClinGen gnomAD |
|
|
rs1358476419 CA354734142 |
249 | P>S | No |
ClinGen TOPMed |
|
|
rs952844737 CA84147145 |
250 | I>S | No |
ClinGen Ensembl |
|
|
rs773800250 CA2629665 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401843217 CA354734182 |
254 | T>N | No |
ClinGen gnomAD |
|
|
CA2629666 rs759075535 |
257 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767087590 CA2629667 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752301410 CA2629668 |
261 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755921095 CA2629669 |
263 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA84147147 rs868864751 |
264 | S>N | No |
ClinGen Ensembl |
|
|
rs200018500 CA2629670 |
265 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343763078 CA354734284 |
266 | A>S | No |
ClinGen gnomAD |
|
|
rs1343763078 CA354734281 |
266 | A>T | No |
ClinGen gnomAD |
|
|
rs1432628958 CA354734288 |
266 | A>V | No |
ClinGen TOPMed |
|
|
CA2629693 rs780036502 |
272 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2629696 rs781506236 |
278 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2629697 rs748442196 |
278 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2629698 rs770155104 |
279 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA354626673 rs1328961585 |
280 | E>K | No |
ClinGen TOPMed |
|
|
rs1576388997 CA354627084 |
286 | H>P | No |
ClinGen Ensembl |
|
|
CA2629700 rs749856804 |
286 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354627176 rs1477748900 |
288 | P>L | No |
ClinGen gnomAD |
|
|
rs760267858 CA2629703 |
289 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2629701 rs201455572 |
289 | S>P | No |
ClinGen ExAC |
|
|
CA2629702 rs201455572 |
289 | S>T | No |
ClinGen ExAC |
|
|
CA2629704 rs768130276 |
290 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs995446201 CA83743171 |
292 | R>C | No |
ClinGen gnomAD |
|
|
rs761687482 CA2629706 |
292 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423406836 CA354627390 |
294 | P>S | No |
ClinGen TOPMed |
|
|
CA83743173 rs959430781 |
295 | A>V | No |
ClinGen Ensembl |
|
|
rs765192484 CA2629707 |
296 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1576389049 CA354627521 |
297 | A>V | No |
ClinGen Ensembl |
|
|
CA354627577 rs1428469015 |
298 | S>F | No |
ClinGen gnomAD |
|
|
CA2629710 rs766360874 |
302 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371780361 COSM122876 COSM122877 CA2629712 |
304 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs757739384 CA2629711 |
304 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629717 rs749679220 |
306 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754794729 CA2629718 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354628011 rs1244380346 |
311 | D>N | No |
ClinGen gnomAD |
|
|
CA354628125 rs1475438400 |
314 | P>S | No |
ClinGen gnomAD |
|
|
CA354628323 rs1576389121 |
320 | T>A | No |
ClinGen Ensembl |
|
|
CA354628330 rs1445739259 |
320 | T>N | No |
ClinGen TOPMed |
|
|
rs1392317087 CA354634991 |
321 | S>N | No |
ClinGen gnomAD |
|
|
CA2629740 rs770155473 COSM218749 COSM218748 |
322 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354635037 rs1576414344 |
325 | G>C | No |
ClinGen Ensembl |
|
|
rs1237316538 CA354635043 |
325 | G>V | No |
ClinGen gnomAD |
|
|
COSM268387 CA354635059 COSM268386 rs1281577436 |
327 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747682274 COSM70632 CA2629742 COSM70633 |
327 | R>H | ovary endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2629743 rs769528862 |
332 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748976557 CA2629745 |
333 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629746 rs770814203 |
334 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA83759053 rs961044599 |
336 | T>M | No |
ClinGen Ensembl |
|
|
rs1410626849 CA354635180 |
337 | S>P | No |
ClinGen TOPMed |
|
|
CA354635249 rs1233206145 |
341 | E>K | No |
ClinGen gnomAD |
|
|
CA2629750 rs767559840 |
343 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775510705 CA2629751 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83759120 rs752784707 |
346 | R>K | No |
ClinGen Ensembl |
|
|
CA2629752 rs760751675 |
347 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA354635478 rs1395878132 |
351 | R>G | No |
ClinGen gnomAD |
|
|
rs757558701 CA2629755 |
351 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354635479 rs1395878132 |
351 | R>W | No |
ClinGen gnomAD |
|
|
rs1486100057 CA354635503 |
353 | D>N | No |
ClinGen TOPMed |
|
|
CA354635537 rs1275902419 |
353 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2629756 rs765674727 |
355 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354635573 rs765674727 |
355 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291979253 CA354635769 |
362 | K>N | No |
ClinGen gnomAD |
|
|
COSM145374 rs377348490 CA2629762 COSM145373 |
364 | R>Q | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs373293977 CA2629761 |
364 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250202947 CA354635829 |
366 | D>H | No |
ClinGen gnomAD |
|
|
CA354635921 rs1042789 |
367 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA83759156 rs1042789 VAR_011803 |
367 | R>G | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs749032472 CA2629764 |
367 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629763 rs749032472 |
367 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354635912 rs1042789 |
367 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354635927 rs576710309 |
368 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370730579 CA2629766 |
368 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2629765 rs576710309 COSM1536346 COSM1536345 |
368 | R>W | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA2629767 rs771931714 |
370 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1308624 CA354636065 rs1164993873 COSM1308625 |
371 | S>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs775424447 CA2629768 |
372 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2629769 rs373296912 |
372 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM728282 COSM728283 rs373296912 CA354636094 |
372 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs16842647 CA2629771 |
374 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354636115 rs1473516106 |
374 | D>N | No |
ClinGen TOPMed |
|
|
CA2629773 rs765401856 |
375 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981410417 CA83759227 |
375 | D>G | No |
ClinGen TOPMed |
|
|
rs150028142 CA2629772 |
375 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629774 rs750758313 |
376 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA354636222 rs1434477593 |
378 | E>K | No |
ClinGen gnomAD |
|
|
CA83759242 rs867526874 |
381 | P>S | No |
ClinGen Ensembl |
|
|
CA354636339 rs1576414549 |
382 | R>K | No |
ClinGen Ensembl |
|
|
rs978343500 CA354636408 |
383 | Q>H | No |
ClinGen gnomAD |
|
|
CA354636459 rs1415897758 |
386 | L>Q | No |
ClinGen gnomAD |
|
|
VAR_042166 CA2629777 rs56396912 COSM94213 COSM94214 |
387 | T>M | ovary [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs760694539 CA83759304 |
388 | E>G | No |
ClinGen Ensembl |
|
|
rs1270405004 CA354636500 |
388 | E>K | No |
ClinGen gnomAD |
|
|
CA2629779 rs777379495 |
389 | C>G | No |
ClinGen ExAC |
|
|
COSM1419269 CA2629780 COSM50316 rs753407361 |
390 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1419270 COSM1419271 CA2629781 rs201125634 |
390 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1477595628 CA354636621 |
395 | S>G | No |
ClinGen gnomAD |
|
|
rs370911769 CA2629784 |
395 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528523065 CA83759338 |
398 | A>T | No |
ClinGen Ensembl |
|
|
CA2629787 rs541095826 |
401 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541095826 CA2629786 |
401 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200876961 CA2629789 |
403 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200876961 CA83759378 |
403 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1406552743 CA354636787 |
405 | D>N | No |
ClinGen TOPMed |
|
|
rs1387986901 CA354636803 |
406 | I>F | No |
ClinGen TOPMed |
|
|
CA2629792 rs763395281 |
407 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA354636838 rs1162509500 |
409 | I>V | No |
ClinGen TOPMed |
|
|
CA2629793 rs367611346 |
410 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318339033 CA354636868 |
412 | V>I | No |
ClinGen gnomAD |
|
|
CA354636897 rs1369618473 |
416 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1231572134 CA354636903 |
416 | S>R | No |
ClinGen gnomAD |
|
|
rs1305200941 CA354636906 |
417 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1038736 rs1305200941 COSM1038738 CA354636904 |
417 | P>T | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2629796 rs767929800 |
418 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354636913 rs1576414702 |
418 | F>S | No |
ClinGen Ensembl |
|
|
rs371710725 CA2629799 |
419 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs547087223 CA83759443 |
420 | P>A | No |
ClinGen gnomAD |
|
|
rs1205652617 CA354636926 |
420 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1205652617 CA354636925 |
420 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372455013 CA354636944 |
423 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629803 rs372455013 |
423 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227299089 CA354636964 |
426 | N>S | No |
ClinGen gnomAD |
|
|
CA354636970 rs1434117279 |
427 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354636975 rs1576414758 |
428 | T>P | No |
ClinGen Ensembl |
|
|
rs780994926 CA2629806 |
431 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs769821589 CA2629808 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190741960 CA354638131 |
434 | P>L | No |
ClinGen gnomAD |
|
|
COSM1536339 COSM1536340 CA2629828 rs183234182 |
437 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201012406 CA83773862 |
438 | P>S | No |
ClinGen Ensembl |
|
|
CA2629830 COSM3774565 rs774730651 COSM3774566 |
439 | I>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354638203 rs1284731419 |
440 | M>I | No |
ClinGen gnomAD |
|
|
CA2629831 rs746234172 |
440 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361827878 CA354638226 |
443 | V>A | No |
ClinGen TOPMed |
|
|
CA354638284 rs1206152153 |
451 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2629837 rs762457030 |
457 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2629839 rs751269315 |
459 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754797097 CA2629840 COSM728272 COSM728273 |
460 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767255002 CA2629841 COSM99060 COSM99059 |
461 | N>S | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752653616 CA2629842 |
464 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA354638393 rs1401137889 |
468 | E>K | No |
ClinGen gnomAD |
|
|
CA2629845 rs749312347 |
470 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629844 rs202048188 |
470 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354638817 rs1458328747 |
477 | N>D | No |
ClinGen TOPMed |
|
|
CA2629866 rs757385650 |
480 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA83778359 rs902226180 |
481 | S>C | No |
ClinGen Ensembl |
|
|
CA83778363 rs936404830 |
482 | S>F | No |
ClinGen Ensembl |
|
|
CA83778369 rs758704549 |
483 | M>T | No |
ClinGen Ensembl |
|
|
CA354638870 rs1176692944 |
483 | M>V | No |
ClinGen gnomAD |
|
|
CA83778371 rs777709674 |
484 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200172177 CA2629867 |
485 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354638883 rs200172177 |
485 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83778381 rs900262616 |
488 | T>P | No |
ClinGen Ensembl |
|
|
CA354638920 rs1317865317 |
490 | T>I | No |
ClinGen TOPMed |
|
|
rs1468456796 CA354638932 |
492 | R>S | No |
ClinGen gnomAD |
|
|
rs1023830216 CA83778387 |
494 | D>Y | No |
ClinGen TOPMed |
|
|
CA2629873 rs201303544 |
497 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM445635 COSM445636 CA2629872 rs201303544 |
497 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371083718 CA2629871 |
497 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1337038539 CA354638972 |
499 | G>V | No |
ClinGen gnomAD |
|
|
CA354638983 rs1407256267 |
501 | V>I | No |
ClinGen gnomAD |
|
|
CA354638989 rs1324479292 |
502 | Y>H | No |
ClinGen gnomAD |
|
|
CA2629874 rs748693610 |
506 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1736675 CA2629875 COSM1736674 rs770406411 |
507 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1290751781 CA354639034 |
509 | R>C | No |
ClinGen gnomAD |
|
|
CA2629876 rs773682419 |
509 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759113272 CA2629877 |
514 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA83778422 rs771555643 |
515 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629878 rs771555643 |
515 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890675403 CA83778426 |
517 | F>Y | No |
ClinGen Ensembl |
|
|
rs764023435 CA2629881 |
519 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA354639095 rs1435865991 |
519 | G>S | No |
ClinGen gnomAD |
|
|
CA354639106 rs1476924333 |
520 | K>N | No |
ClinGen TOPMed |
|
|
CA354639108 rs1252291179 |
521 | M>L | No |
ClinGen gnomAD |
|
|
CA83778431 rs1005169615 |
522 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1185754917 CA354639154 |
527 | T>N | No |
ClinGen gnomAD |
|
|
CA2629882 rs375799685 |
528 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755303575 CA2629891 |
529 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2629892 rs199549466 |
532 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354639202 rs1375187541 |
532 | K>R | No |
ClinGen Ensembl |
|
|
rs770245253 CA2629894 |
534 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2629893 rs748534448 |
534 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2629896 rs745311505 |
537 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2629895 rs371609605 |
537 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397136912 CA354639252 |
540 | P>H | No |
ClinGen gnomAD |
|
|
rs540125789 CA2629897 |
542 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774975718 CA2629898 |
545 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354639283 rs1346838873 |
546 | A>T | No |
ClinGen gnomAD |
|
|
rs1257672576 CA354639294 |
547 | A>G | No |
ClinGen gnomAD |
|
|
rs1257672576 CA354639293 |
547 | A>V | No |
ClinGen gnomAD |
|
|
rs1576439617 CA354639299 |
548 | A>G | No |
ClinGen Ensembl |
|
|
rs1261079719 CA354639303 |
549 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA83779968 rs952940770 |
550 | V>G | No |
ClinGen Ensembl |
|
|
rs368240835 CA354639312 |
551 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368240835 CA2629905 |
551 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751754359 CA2629907 |
553 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354639325 rs1174327737 |
553 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354639326 rs1174327737 |
553 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354639331 rs536013299 |
554 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA83780000 rs536013299 |
554 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354639339 rs1320801657 |
555 | S>F | No |
ClinGen gnomAD |
|
|
CA2629908 rs755140016 |
555 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA354639347 rs1204593662 |
557 | V>M | No |
ClinGen TOPMed |
|
|
rs1576439666 CA354639354 |
558 | A>P | No |
ClinGen Ensembl |
|
|
rs1303050953 CA354639359 |
559 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2629911 rs377220159 |
560 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629912 rs778127702 |
561 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2629914 rs202034365 |
562 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176702421 CA354639385 |
563 | C>Y | No |
ClinGen gnomAD |
|
|
rs779569160 CA2629915 |
564 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs754177022 CA2629930 |
566 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757743061 CA2629931 |
567 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779297354 CA2629932 |
567 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757743061 CA354639423 |
567 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2629934 rs754596439 |
568 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354639432 rs1576440340 |
568 | A>V | No |
ClinGen Ensembl |
|
|
rs780990419 CA2629935 |
569 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354639481 rs1166430396 |
573 | A>S | No |
ClinGen gnomAD |
|
|
CA354639478 rs1166430396 |
573 | A>T | No |
ClinGen gnomAD |
|
|
COSM445638 rs548362226 COSM445637 CA2629936 |
574 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs899719502 CA83780456 |
576 | S>T | No |
ClinGen Ensembl |
|
|
rs749064193 CA2629939 |
577 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1410311147 CA354639523 |
577 | D>G | No |
ClinGen gnomAD |
|
|
rs145366861 CA83780463 |
577 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1354870940 CA354639533 |
578 | K>R | No |
ClinGen gnomAD |
|
|
CA83780472 rs184993024 |
580 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs1053696376 CA83780486 |
585 | G>R | No |
ClinGen TOPMed |
|
|
rs770834786 CA2629940 |
586 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2629964 rs774713350 |
587 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354639617 rs1226967786 |
587 | G>C | No |
ClinGen gnomAD |
|
|
rs774713350 CA354630043 |
587 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226967786 CA354639615 |
587 | G>R | No |
ClinGen gnomAD |
|
|
CA2629965 rs774713350 |
587 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277909113 CA354630047 |
588 | S>P | No |
ClinGen TOPMed |
|
|
rs1559863812 CA354630073 |
590 | G>R | No |
ClinGen Ensembl |
|
|
rs1442372166 CA354630128 |
593 | I>S | No |
ClinGen Ensembl |
|
|
rs750940800 CA2629967 |
595 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA354630197 rs1274590250 |
597 | P>S | No |
ClinGen gnomAD |
|
|
rs1476606644 CA354630227 |
600 | Y>D | No |
ClinGen gnomAD |
|
|
rs55993015 CA83768832 |
604 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs890270724 CA83768827 |
604 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1038745 COSM1038747 rs546798910 CA2629971 |
605 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1206349641 CA354630430 |
607 | V>F | No |
ClinGen gnomAD |
|
|
CA2629972 rs777467287 |
608 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83768854 rs185655852 |
608 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
CA354630483 rs1192647538 |
609 | E>V | No |
ClinGen gnomAD |
|
|
rs753499305 CA2629973 |
610 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354630525 rs1559863870 |
611 | A>T | No |
ClinGen Ensembl |
|
|
rs1478914518 CA354630553 |
612 | K>E | No |
ClinGen gnomAD |
|
|
CA2629974 rs757013708 |
612 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354630595 rs1407250339 |
614 | I>T | No |
ClinGen gnomAD |
|
|
rs745695669 CA2629976 |
615 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2629975 rs778632279 |
615 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758266659 CA354630639 |
616 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2629977 rs758266659 |
616 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354630695 rs1323200067 |
618 | F>S | No |
ClinGen gnomAD |
|
|
CA2629979 rs375222902 |
619 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2629978 rs779869039 |
619 | V>M | No |
ClinGen ExAC |
|
|
rs1439136034 CA354630745 |
621 | I>T | No |
ClinGen gnomAD |
|
|
CA2629980 rs768688376 |
622 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs368385190 CA83768945 |
624 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368385190 CA2629981 |
624 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354630864 rs1387550343 |
626 | G>R | No |
ClinGen TOPMed |
|
|
rs1329258481 CA354630880 |
627 | A>S | No |
ClinGen gnomAD |
|
|
rs1559869147 CA354632412 |
629 | E>* | No |
ClinGen Ensembl |
|
|
rs748267494 CA2630000 |
630 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2630001 rs770070877 |
632 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773578014 CA2630002 |
635 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA83778583 rs149160192 |
637 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA2630003 rs571583026 |
637 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354632495 rs1576459036 |
640 | L>R | No |
ClinGen Ensembl |
|
|
rs774889053 CA2630006 |
641 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774889053 CA2630005 |
641 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM268173 COSM268174 rs768101201 CA2630007 |
642 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775938790 CA2630008 |
643 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354632540 rs1428263720 |
644 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1171028779 CA354632550 |
645 | E>K | No |
ClinGen gnomAD |
|
|
rs761326171 CA354632577 |
646 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs764856812 CA2630010 |
647 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1341771878 CA354632597 |
648 | V>L | No |
ClinGen gnomAD |
|
|
CA354632594 rs1341771878 |
648 | V>M | No |
ClinGen gnomAD |
|
|
CA354632662 rs1262078917 |
652 | T>N | No |
ClinGen gnomAD |
|
|
rs1296467882 CA354632658 |
652 | T>S | No |
ClinGen gnomAD |
|
|
CA2630014 rs201816783 |
658 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752762812 CA2630017 |
662 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs756316035 CA354632799 |
662 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756316035 CA2630018 |
662 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354632807 rs749562219 |
663 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749562219 CA2630020 |
663 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778136807 CA2630019 |
663 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771302924 CA2630021 |
664 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630022 rs779108886 |
667 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA354632903 rs1344861729 |
670 | S>T | No |
ClinGen TOPMed |
|
|
CA2630024 rs375102539 |
672 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354632984 rs1414610129 |
675 | F>L | No |
ClinGen gnomAD |
|
|
rs761311928 CA2630026 |
676 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2630025 rs757883750 |
676 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2630027 rs763618783 |
677 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1298016895 CA354633014 |
677 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2630028 rs772831803 |
678 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354633037 rs368515643 |
680 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2630029 rs368515643 |
680 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959853730 CA83778763 |
682 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766084445 CA2630030 COSM3846304 COSM3846303 |
682 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354633136 rs1413864044 |
687 | V>G | No |
ClinGen TOPMed |
|
|
CA354633129 rs1559869352 |
687 | V>I | No |
ClinGen Ensembl |
|
|
rs751243691 CA2630031 |
688 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463657910 CA354633163 |
689 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1463657910 CA354633162 |
689 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2630032 rs371576789 |
690 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1038757 rs1384145752 COSM1038759 CA354633176 |
691 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs767340477 COSM1566251 CA2630033 COSM1566250 |
691 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2630035 rs764026044 |
692 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354633224 rs1208037312 |
694 | M>I | No |
ClinGen TOPMed |
|
|
CA354633210 rs1382160970 |
694 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2630036 rs778046911 |
696 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2630038 rs376138792 |
699 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376138792 CA2630037 |
699 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1458439882 CA354633357 |
700 | M>I | No |
ClinGen gnomAD |
|
|
CA2630039 rs779210869 |
700 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354633380 rs1389706348 |
701 | E>D | No |
ClinGen gnomAD |
|
|
rs1320864936 CA354633372 |
701 | E>V | No |
ClinGen gnomAD |
|
|
CA354633407 rs1219416373 |
703 | G>D | No |
ClinGen TOPMed |
|
|
CA2630041 rs772555556 |
703 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2630042 rs780511611 |
707 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1287760833 CA354633473 |
708 | F>L | No |
ClinGen gnomAD |
|
|
CA354635269 rs1166499752 |
714 | G>R | No |
ClinGen gnomAD |
|
|
rs1385600362 CA354635282 |
714 | G>V | No |
ClinGen gnomAD |
|
|
CA2630070 rs775383394 |
715 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372270108 CA354635295 |
716 | F>L | No |
ClinGen gnomAD |
|
|
CA2630072 rs141607080 |
718 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375704437 CA2630074 |
721 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs765410243 CA2630075 |
723 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758608839 CA2630077 |
724 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2630076 rs750495946 |
724 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630079 rs766595273 |
726 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83783799 rs778449715 |
727 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2630081 rs755389389 |
728 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2630083 rs542190087 |
729 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405408293 CA354635514 |
730 | A>V | No |
ClinGen gnomAD |
|
|
CA2630085 rs778435116 |
732 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1453561878 CA354635579 |
735 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775342164 CA2630088 |
737 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371210607 CA83783857 |
738 | M>K | No |
ClinGen ESP TOPMed |
|
|
CA83783860 rs371210607 |
738 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs1358613511 CA354635633 |
739 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1338928289 COSM20608 COSM3748798 CA354635699 VAR_042169 |
743 | R>Q | a gastric adenocarcinoma sample; somatic mutation stomach [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA2630089 rs746798014 COSM260707 COSM260706 |
743 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1306930564 CA354635775 |
748 | R>G | No |
ClinGen TOPMed |
|
|
rs773280811 CA2630094 |
754 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630095 rs763030853 |
757 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354635976 rs1211546593 |
759 | K>Q | No |
ClinGen gnomAD |
|
|
COSM1251367 rs759860489 CA2630098 COSM1251368 |
767 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767972363 CA2630099 |
767 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354636200 rs1323620079 |
770 | Q>R | No |
ClinGen gnomAD |
|
|
CA354636226 rs1190542857 |
771 | D>G | No |
ClinGen gnomAD |
|
|
rs149192736 COSM109452 COSM109453 CA83783958 |
771 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs149192736 CA83783964 |
771 | D>Y | No |
ClinGen TOPMed |
|
|
rs753024740 CA2630100 |
772 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83783979 rs992344913 |
773 | T>N | No |
ClinGen Ensembl |
|
|
rs576043847 CA2630102 |
773 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs967317783 CA83783996 |
774 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354636314 rs1576465240 |
775 | D>V | No |
ClinGen Ensembl |
|
|
CA354636327 rs1377760142 |
776 | P>T | No |
ClinGen TOPMed |
|
|
CA354636452 rs1347288011 |
781 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs779823058 CA2630105 |
782 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1407276446 CA354732028 |
790 | W>R | No |
ClinGen gnomAD |
|
|
rs754436903 CA2630124 |
793 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407516775 CA354732056 |
794 | E>G | No |
ClinGen gnomAD |
|
|
CA2630126 rs779665397 |
797 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346978629 CA354732089 |
799 | R>C | No |
ClinGen TOPMed |
|
|
rs533462328 CA2630128 |
799 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2630129 rs780725325 |
800 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA84164943 rs928158346 |
803 | S>L | No |
ClinGen TOPMed |
|
|
rs777732731 CA2630132 |
805 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs770876558 CA354732137 |
806 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774372100 CA2630135 |
807 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354732147 rs1412041172 |
808 | W>* | No |
ClinGen gnomAD |
|
|
CA2630136 rs371334171 |
810 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354732174 rs1370419986 |
812 | I>L | No |
ClinGen gnomAD |
|
|
rs1042786 CA2630139 |
813 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84164944 rs907009159 |
814 | M>K | No |
ClinGen Ensembl |
|
|
CA354732203 rs1224986515 |
816 | E>K | No |
ClinGen gnomAD |
|
|
rs777159164 CA2630141 |
820 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374659425 CA2630140 |
820 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282108966 CA354732244 |
822 | E>K | No |
ClinGen gnomAD |
|
|
rs762374006 CA2630142 |
824 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA354732268 rs1255555341 |
825 | Y>C | No |
ClinGen gnomAD |
|
|
rs528389234 CA2630144 |
827 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354732291 rs1204410458 |
828 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1339928994 CA354732298 |
829 | S>P | No |
ClinGen gnomAD |
|
|
rs1197507898 CA354732315 |
831 | Q>R | No |
ClinGen gnomAD |
|
|
rs748523036 CA2630177 |
833 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770318260 CA2630178 |
835 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1243043265 CA354733230 |
836 | A>V | No |
ClinGen TOPMed |
|
|
rs377246782 CA84165771 |
837 | I>V | No |
ClinGen ESP |
|
|
rs370164002 CA2630180 |
838 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84165772 rs1031952280 |
840 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM244284 COSM244283 rs1469973523 CA354733291 |
840 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA354733289 rs1469973523 |
840 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2630182 rs200311306 |
842 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1231022222 CA354733334 |
844 | P>A | No |
ClinGen gnomAD |
|
|
CA354733346 rs1281404377 |
844 | P>R | No |
ClinGen gnomAD |
|
|
rs1231022222 CA354733337 |
844 | P>S | No |
ClinGen gnomAD |
|
|
rs201140799 CA354733352 |
845 | P>A | No |
ClinGen TOPMed |
|
|
rs1473679734 CA354733358 |
845 | P>Q | No |
ClinGen TOPMed |
|
|
rs201140799 CA84165774 |
845 | P>T | No |
ClinGen TOPMed |
|
|
rs753554755 CA2630186 |
846 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354733377 rs1576499439 |
847 | M>L | No |
ClinGen Ensembl |
|
|
rs946684936 CA84165776 |
851 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2630187 rs761573619 |
851 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1485466542 CA354733482 |
853 | L>P | No |
ClinGen TOPMed |
|
|
rs764963089 CA2630188 |
857 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354733540 rs764963089 |
857 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84165778 rs151302345 |
861 | W>* | No |
ClinGen gnomAD |
|
|
rs151302345 CA354733612 |
861 | W>C | No |
ClinGen gnomAD |
|
|
CA2630189 rs750265015 |
861 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480515100 CA354733653 |
864 | D>N | No |
ClinGen gnomAD |
|
|
rs751581569 CA2630192 |
865 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758204492 CA2630190 COSM728252 COSM728253 |
865 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1158893472 CA354733686 |
866 | N>H | No |
ClinGen gnomAD |
|
|
rs748426868 CA2630195 |
868 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354733738 rs1340747830 |
869 | P>L | No |
ClinGen TOPMed |
|
|
rs770160653 CA2630196 |
869 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs374549505 CA2630199 |
870 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2630198 rs749666684 |
870 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1241476139 CA354733752 |
871 | F>L | No |
ClinGen gnomAD |
|
|
rs534330476 CA354733775 |
872 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1038782 rs534330476 CA2630200 COSM1038780 |
872 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768204306 CA2630202 |
873 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs555755621 CA2630203 |
874 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354733800 rs1271751070 |
874 | I>V | No |
ClinGen gnomAD |
|
|
CA84165779 rs1010498058 |
875 | V>I | No |
ClinGen TOPMed |
|
|
CA354733839 rs1247849440 |
876 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764876925 CA2630205 |
878 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs182291054 CA84165780 |
879 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA354733924 rs1422590121 |
881 | M>I | No |
ClinGen gnomAD |
|
|
CA354733934 rs1291463395 |
882 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs186851943 CA354733951 |
883 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2630207 COSM3427118 rs186851943 COSM3427119 |
883 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201143675 CA2630206 |
883 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354733958 rs1576499571 |
884 | N>T | No |
ClinGen Ensembl |
|
|
rs1307445052 COSM581562 CA354733969 COSM581561 |
885 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA84165781 rs904442404 |
885 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA84165782 rs868241569 |
886 | A>T | No |
ClinGen Ensembl |
|
|
rs1223017770 CA354733987 |
887 | S>G | No |
ClinGen TOPMed |
|
|
rs377341308 CA84165783 |
889 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2630209 rs558321566 |
889 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244162453 CA354734027 |
889 | K>R | No |
ClinGen gnomAD |
|
|
CA354734036 rs1271746717 |
890 | T>S | No |
ClinGen TOPMed |
|
|
CA2630210 rs755081922 |
891 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354734059 rs1205107482 |
892 | A>S | No |
ClinGen gnomAD |
|
|
CA354734087 rs1177422998 |
894 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1419319 CA2630215 COSM1419318 rs749600936 |
896 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs61736108 CA354734137 |
897 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61736108 CA2630217 |
897 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM226532 rs746236958 COSM226531 CA2630235 |
901 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs562921626 CA84165879 |
901 | P>S | No |
ClinGen gnomAD |
|
|
CA2630236 rs758846791 |
903 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1232280655 CA354734335 |
904 | D>E | No |
ClinGen TOPMed |
|
|
rs780597750 CA2630237 |
904 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780597750 CA354734330 |
904 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143309901 CA2630238 |
905 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1419321 rs201702941 CA2630239 COSM1419320 |
905 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs549592723 CA2630240 |
906 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2630241 rs748918076 |
907 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354734347 rs748918076 |
907 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569596041 CA2630242 |
909 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774221025 CA2630243 |
910 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3123069 CA2630244 rs759415643 COSM3123068 |
911 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
VAR_042170 rs56345346 CA2630247 |
912 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2630249 COSM1172941 rs753895808 COSM1172940 |
916 | V>M | oesophagus urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1430178684 CA354734409 |
917 | D>N | No |
ClinGen gnomAD |
|
|
CA84165880 rs771540416 |
919 | W>C | No |
ClinGen Ensembl |
|
|
rs765393605 CA2630252 |
921 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373797543 CA2630253 COSM204655 COSM204656 |
922 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2630254 rs780511479 |
923 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1432070199 CA354734459 |
924 | K>R | No |
ClinGen gnomAD |
|
|
rs56111847 CA2630255 |
925 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA84165881 rs56111847 |
925 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354734471 rs1169739643 |
926 | V>L | No |
ClinGen TOPMed |
|
|
rs370541210 CA84165882 |
927 | Q>R | No |
ClinGen Ensembl |
|
|
CA2630256 rs755457534 |
928 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242081780 CA354734497 |
930 | D>N | No |
ClinGen TOPMed |
|
|
rs777294211 CA2630257 |
931 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs199952206 CA2630258 |
931 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA84165883 rs576733543 |
940 | L>R | No |
ClinGen gnomAD |
|
|
rs778764510 CA2630260 |
941 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745652340 CA2630261 |
941 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2630262 rs772031329 |
942 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1201603228 CA354734601 |
946 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA354734600 rs1490824537 |
946 | M>L | No |
ClinGen gnomAD |
|
|
rs1201603228 CA354734602 |
946 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA84165884 rs925245331 |
947 | T>I | No |
ClinGen Ensembl |
|
|
rs760621456 CA2630264 |
948 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354734617 rs1352808257 |
949 | E>K | No |
ClinGen Ensembl |
|
|
COSM1038783 rs1354688627 COSM1038785 CA354734640 |
950 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1246616866 CA354734677 |
955 | G>A | No |
ClinGen gnomAD |
|
|
rs1384787015 CA354734675 |
955 | G>R | No |
ClinGen gnomAD |
|
|
CA2630290 rs773298865 |
957 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630289 rs773298865 |
957 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576509997 CA354734707 |
960 | G>A | No |
ClinGen Ensembl |
|
|
rs766596954 CA2630291 |
967 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173387194 CA354734771 |
969 | I>T | No |
ClinGen TOPMed |
|
|
rs1004101848 CA84166933 |
969 | I>V | No |
ClinGen TOPMed |
|
|
CA354734781 rs1576510032 |
970 | H>Q | No |
ClinGen Ensembl |
|
|
rs751897556 CA2630292 |
971 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1462990586 CA354734794 |
972 | M>I | No |
ClinGen gnomAD |
|
|
CA354734788 rs759878527 |
972 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630293 rs759878527 |
972 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368683804 CA354734800 |
973 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042784 CA84166934 VAR_058479 |
973 | R>W | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA84166935 rs753186364 |
975 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1559896457 CA354734818 |
976 | I>T | No |
ClinGen Ensembl |
|
|
rs756806407 CA354734825 |
977 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756806407 CA2630296 |
977 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2630297 rs778517382 |
978 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2630298 rs749957962 |
978 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2630299 rs758065186 |
979 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334331227 CA354734842 |
980 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs56186270 VAR_042171 CA2630300 |
981 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA354734851 rs754767477 |
982 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754767477 CA2630302 |
982 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324574213 CA354734852 |
982 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747983064 CA2630304 |
983 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2630303 rs781163829 |
983 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318740794 CA354734862 |
984 | A>T | No |
ClinGen TOPMed gnomAD |
No associated diseases with P54762
13 regional properties for P54762
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 619 - 882 | IPR000719 |
| domain | Ephrin receptor ligand binding domain | 19 - 201 | IPR001090 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 620 - 878 | IPR001245 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 177 - 197 | IPR001426-1 |
| conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 240 - 260 | IPR001426-2 |
| domain | Sterile alpha motif domain | 908 - 975 | IPR001660 |
| domain | Fibronectin type III | 322 - 528 | IPR003961 |
| active_site | Tyrosine-protein kinase, active site | 740 - 752 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 625 - 651 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 619 - 878 | IPR020635 |
| domain | Ephrin receptor, transmembrane domain | 542 - 616 | IPR027936 |
| domain | Ephrin type-B receptor 1, ligand binding domain | 20 - 195 | IPR034231 |
| domain | EphB1, SAM domain | 908 - 975 | IPR042819 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| filopodium tip | The end of a filopodium distal to the body of the cell. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| axon guidance receptor activity | Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. |
| 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. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
| transmembrane-ephrin receptor activity | Combining with a transmembrane ephrin to initiate a change in cell activity. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| camera-type eye morphogenesis | The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cell chemotaxis | The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| cell-substrate adhesion | The attachment of a cell to the underlying substrate via adhesion molecules. |
| central nervous system projection neuron axonogenesis | Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region. |
| dendritic spine development | The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| dendritic spine morphogenesis | The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| detection of temperature stimulus involved in sensory perception of pain | The series of events involved in the perception of pain in which a temperature stimulus is received and converted into a molecular signal. |
| ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
| hindbrain tangential cell migration | The migration of a cell in the hindbrain in which cells move orthogonal to the direction of radial migration. |
| immunological synapse formation | The formation of an area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and target cell, which facilitates activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| negative regulation of satellite cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of satellite cell differentiation. |
| negative regulation of skeletal muscle satellite cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of satellite cell proliferation. |
| neural precursor cell proliferation | The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell. |
| neurogenesis | Generation of cells within the nervous system. |
| optic nerve morphogenesis | The process in which the anatomical structure of the optic nerve is generated and organized. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain. |
| positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| positive regulation of synapse assembly | Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. |
| 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). |
| regulation of ERK1 and ERK2 cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| regulation of JNK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| regulation of neuron death | Any process that modulates the frequency, rate or extent of neuron death. |
| retinal ganglion cell axon guidance | The process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues. |
| skeletal muscle satellite cell activation | The change of a skeletal muscle satellite cell from a mitotically quiescent to a mitotically active state following exposure to some activating factor such as a cellular or soluble ligand. In adult muscle, satellite cells become activated to divide and differentiate in response to muscle damage. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P28693 | EPHB2 | Ephrin type-B receptor 2 | Gallus gallus (Chicken) | PR |
| Q07496 | EPHA4 | Ephrin type-A receptor 4 | Gallus gallus (Chicken) | SS |
| Q07497 | EPHB5 | Ephrin type-B receptor 5 | Gallus gallus (Chicken) | PR |
| P29318 | EPHA3 | Ephrin type-A receptor 3 | Gallus gallus (Chicken) | SS |
| O42422 | EPHA7 | Ephrin type-A receptor 7 | Gallus gallus (Chicken) | SS |
| P54755 | EPHA5 | Ephrin type-A receptor 5 | Gallus gallus (Chicken) | SS |
| Q07498 | EPHB3 | Ephrin type-B receptor 3 | Gallus gallus (Chicken) | SS |
| Q07494 | EPHB1 | Ephrin type-B receptor 1 | Gallus gallus (Chicken) | SS |
| P0C0K6 | EPHB6 | Ephrin type-B receptor 6 | Pan troglodytes (Chimpanzee) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| Q15375 | EPHA7 | Ephrin type-A receptor 7 | Homo sapiens (Human) | SS |
| P54756 | EPHA5 | Ephrin type-A receptor 5 | Homo sapiens (Human) | SS |
| Q9UF33 | EPHA6 | Ephrin type-A receptor 6 | Homo sapiens (Human) | SS |
| P29322 | EPHA8 | Ephrin type-A receptor 8 | Homo sapiens (Human) | SS |
| P29320 | EPHA3 | Ephrin type-A receptor 3 | Homo sapiens (Human) | PR |
| P54764 | EPHA4 | Ephrin type-A receptor 4 | Homo sapiens (Human) | SS |
| P54753 | EPHB3 | Ephrin type-B receptor 3 | Homo sapiens (Human) | SS |
| Q5JZY3 | EPHA10 | Ephrin type-A receptor 10 | Homo sapiens (Human) | SS |
| O15197 | EPHB6 | Ephrin type-B receptor 6 | Homo sapiens (Human) | SS |
| P29323 | EPHB2 | Ephrin type-B receptor 2 | Homo sapiens (Human) | EV |
| P54754 | Ephb3 | Ephrin type-B receptor 3 | Mus musculus (Mouse) | SS |
| Q03145 | Epha2 | Ephrin type-A receptor 2 | Mus musculus (Mouse) | PR |
| Q03137 | Epha4 | Ephrin type-A receptor 4 | Mus musculus (Mouse) | SS |
| Q61772 | Epha7 | Ephrin type-A receptor 7 | Mus musculus (Mouse) | SS |
| O09127 | Epha8 | Ephrin type-A receptor 8 | Mus musculus (Mouse) | SS |
| Q8BYG9 | Epha10 | Ephrin type-A receptor 10 | Mus musculus (Mouse) | SS |
| Q60629 | Epha5 | Ephrin type-A receptor 5 | Mus musculus (Mouse) | SS |
| P29319 | Epha3 | Ephrin type-A receptor 3 | Mus musculus (Mouse) | SS |
| Q62413 | Epha6 | Ephrin type-A receptor 6 | Mus musculus (Mouse) | SS |
| Q60750 | Epha1 | Ephrin type-A receptor 1 | Mus musculus (Mouse) | SS |
| P54763 | Ephb2 | Ephrin type-B receptor 2 | Mus musculus (Mouse) | SS |
| P54761 | Ephb4 | Ephrin type-B receptor 4 | Mus musculus (Mouse) | PR |
| O08644 | Ephb6 | Ephrin type-B receptor 6 | Mus musculus (Mouse) | PR |
| Q8CBF3 | Ephb1 | Ephrin type-B receptor 1 | Mus musculus (Mouse) | SS |
| P54757 | Epha5 | Ephrin type-A receptor 5 | Rattus norvegicus (Rat) | SS |
| P54759 | Epha7 | Ephrin type-A receptor 7 | Rattus norvegicus (Rat) | SS |
| P0C0K7 | Ephb6 | Ephrin type-B receptor 6 | Rattus norvegicus (Rat) | SS |
| O08680 | Epha3 | Ephrin type-A receptor 3 | Rattus norvegicus (Rat) | SS |
| P09759 | Ephb1 | Ephrin type-B receptor 1 | Rattus norvegicus (Rat) | SS |
| O61460 | vab-1 | Ephrin receptor 1 | Caenorhabditis elegans | SS |
| Q8RWZ5 | SD25 | G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AG2 | SERK1 | Somatic embryogenesis receptor kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E991 | PRK6 | Pollen receptor-like kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FXF2 | RKF1 | Probable LRR receptor-like serine/threonine-protein kinase RFK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O13147 | ephb3 | Ephrin type-B receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O73878 | ephb4b | Ephrin type-B receptor 4b | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O13146 | epha3 | Ephrin type-A receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALDYLLLLL | LASAVAAMEE | TLMDTRTATA | ELGWTANPAS | GWEEVSGYDE | NLNTIRTYQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CNVFEPNQNN | WLLTTFINRR | GAHRIYTEMR | FTVRDCSSLP | NVPGSCKETF | NLYYYETDSV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IATKKSAFWS | EAPYLKVDTI | AADESFSQVD | FGGRLMKVNT | EVRSFGPLTR | NGFYLAFQDY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GACMSLLSVR | VFFKKCPSIV | QNFAVFPETM | TGAESTSLVI | ARGTCIPNAE | EVDVPIKLYC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NGDGEWMVPI | GRCTCKPGYE | PENSVACKAC | PAGTFKASQE | AEGCSHCPSN | SRSPAEASPI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CTCRTGYYRA | DFDPPEVACT | SVPSGPRNVI | SIVNETSIIL | EWHPPRETGG | RDDVTYNIIC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKCRADRRSC | SRCDDNVEFV | PRQLGLTECR | VSISSLWAHT | PYTFDIQAIN | GVSSKSPFPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QHVSVNITTN | QAAPSTVPIM | HQVSATMRSI | TLSWPQPEQP | NGIILDYEIR | YYEKEHNEFN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSMARSQTNT | ARIDGLRPGM | VYVVQVRART | VAGYGKFSGK | MCFQTLTDDD | YKSELREQLP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LIAGSAAAGV | VFVVSLVAIS | IVCSRKRAYS | KEAVYSDKLQ | HYSTGRGSPG | MKIYIDPFTY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDPNEAVREF | AKEIDVSFVK | IEEVIGAGEF | GEVYKGRLKL | PGKREIYVAI | KTLKAGYSEK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QRRDFLSEAS | IMGQFDHPNI | IRLEGVVTKS | RPVMIITEFM | ENGALDSFLR | QNDGQFTVIQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LVGMLRGIAA | GMKYLAEMNY | VHRDLAARNI | LVNSNLVCKV | SDFGLSRYLQ | DDTSDPTYTS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SLGGKIPVRW | TAPEAIAYRK | FTSASDVWSY | GIVMWEVMSF | GERPYWDMSN | QDVINAIEQD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YRLPPPMDCP | AALHQLMLDC | WQKDRNSRPR | FAEIVNTLDK | MIRNPASLKT | VATITAVPSQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PLLDRSIPDF | TAFTTVDDWL | SAIKMVQYRD | SFLTAGFTSL | QLVTQMTSED | LLRIGITLAG |
| 970 | 980 | ||||
| HQKKILNSIH | SMRVQISQSP | TAMA |