Q15375

SS
Gene name
EPHA7 (EHK3, HEK11)
Protein name
Ephrin type-A receptor 7
Names
EC 2.7.10.1 , EPH homology kinase 3 , EHK-3 , EPH-like kinase 11 , EK11 , hEK11
Species
Homo sapiens (Human)
KEGG Pathway
hsa:2045
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)

607-633 (Juxtamembrane domain) SS

Target domain

633-894 (Protein kinase domain)

Relief mechanism

PTM

Assay

Accessory elements

775-801 (Activation loop from InterPro)

Target domain

633-894 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

8 structures for Q15375

Entry ID Method Resolution Chain Position Source
2REI X-ray 160 A A 590-899 PDB
3DKO X-ray 200 A A 590-899 PDB
3H8M X-ray 210 A A/B 919-990 PDB
3NRU X-ray 230 A A/B/C/D/E/F/G/H/I/J/K/L 32-204 PDB
7EEC X-ray 310 A A 599-899 PDB
7EED X-ray 305 A A 599-899 PDB
7EEF X-ray 260 A A 599-899 PDB
AF-Q15375-F1 Predicted AlphaFoldDB

1291 variants for Q15375

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1273287575 3 F>L No TOPMed
gnomAD
rs202112730 4 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 4 Q>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1337239729 6 R>L No TOPMed
gnomAD
rs1337239729 6 R>P No TOPMed
gnomAD
rs746638787 8 P>S No TOPMed
gnomAD
rs1779414064 9 S>* No TOPMed
COSM3630632
COSM4894664
 10 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772524127 10 W>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs1199857559 12 I>L No gnomAD
rs140401119 12 I>T No ESP
ExAC
TOPMed
gnomAD
TCGA novel 13 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1779413323 13 L>F No Ensembl
rs779195088 13 L>S No ExAC
gnomAD
rs146742012 15 Y>C No ESP
ExAC
TOPMed
gnomAD
rs1779412834 16 I>T No TOPMed
rs1258617697 17 W>S No gnomAD
rs1216196756 18 L>P No TOPMed
gnomAD
rs1779412241 19 L>H No TOPMed
rs149722351 20 R>C No ESP
ExAC
TOPMed
gnomAD
rs1198612981 20 R>H No TOPMed
gnomAD
rs1373981234 23 H>R No TOPMed
gnomAD
rs752294486 24 T>A No ExAC
gnomAD
rs200143358 24 T>K No ExAC
TOPMed
gnomAD
rs752294486 24 T>P No ExAC
gnomAD
rs200143358 24 T>R No ExAC
TOPMed
gnomAD
rs529519500 25 G>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs529519500 25 G>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs370009055 25 G>R No ESP
ExAC
TOPMed
gnomAD
rs1401739411 26 E>Q No gnomAD
rs773296055 27 A>E No ExAC
TOPMed
gnomAD
rs1779409784 29 A>T No gnomAD
COSM5107681
COSM269112
 30 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1389987827 31 K>R No TOPMed
gnomAD
rs1389987827 31 K>T No TOPMed
gnomAD
rs775107464 33 V>I No Ensembl
rs1192639917 35 L>R No gnomAD
rs750219466 38 S>F No ExAC
gnomAD
rs1289923558 41 Q>H No gnomAD
COSM4992803
COSM4992802
rs1339057136
 44 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs140813099 46 E>K No ESP
ExAC
TOPMed
gnomAD
rs140813099 46 E>Q No ESP
ExAC
TOPMed
gnomAD
COSM4899208
COSM3630631
 48 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1292019841 49 S>C No gnomAD
COSM1697651
COSM4897316
 49 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 49 S>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1779140955 50 S>F No TOPMed
rs1232604941 51 P>S No TOPMed
gnomAD
rs1268640001 52 P>S No TOPMed
gnomAD
rs1779140428 53 N>S No Ensembl
rs867992353 57 E>K No Ensembl
rs766551054 58 I>V No ExAC
gnomAD
rs763098772 61 L>F No ExAC
gnomAD
rs1778957821 62 D>G No TOPMed
TCGA novel 63 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374771258 65 Y>C No ESP
ExAC
gnomAD
rs750661621 65 Y>H No ExAC
gnomAD
rs1238158906 66 T>S No gnomAD
COSM1082677
rs889062730
COSM4872472
 67 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs889062730 67 P>Q No gnomAD
COSM4407906
rs1300929218
COSM126676
 69 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1300929218 69 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1465346253
COSM3922264
COSM35826
 69 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
TCGA novel 70 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1778955869 71 Y>* No TOPMed
rs1778955724 72 Q>E No TOPMed
TCGA novel 73 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761300271 77 M>T No ExAC
TOPMed
gnomAD
TCGA novel 80 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200883289 80 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3630630
COSM4898953
 81 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM5575918
COSM5575919
rs745460482
 82 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs774165896 83 N>S No ExAC
gnomAD
rs570778929 86 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs770806616
COSM4782877
COSM1446507
 86 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1036535390 87 T>S No TOPMed
rs756003702 88 N>K No ExAC
TOPMed
gnomAD
rs1214746243 88 N>T No TOPMed
gnomAD
COSM3630629
COSM4539403
 89 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748124897 90 I>V No ExAC
TOPMed
gnomAD
rs1778952552 91 S>F No Ensembl
rs1241267544 93 G>D No gnomAD
rs779944312 94 N>D No ExAC
TOPMed
gnomAD
rs981923012 94 N>S No TOPMed
gnomAD
COSM1446506
COSM4786528
 95 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127994969 96 Q>L No Ensembl
rs1778951148 98 I>T No Ensembl
rs1314436572 99 F>S No gnomAD
rs1379307134 100 V>L No gnomAD
rs1778950274 103 K>Q No TOPMed
rs1158714216 104 F>C No gnomAD
rs754137746 106 L>V No ExAC
gnomAD
rs1778949138
COSM70629
COSM5608520
 108 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1778949003 114 G>R No TOPMed
COSM4357534
COSM3178904
 117 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764585634 118 T>A No ExAC
TOPMed
gnomAD
COSM743811
COSM4861114
 121 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776073346 124 N>H No ExAC
gnomAD
rs767086353 125 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs759146981 126 Y>C No ExAC
TOPMed
gnomAD
rs1469665299 126 Y>H No gnomAD
rs774043406 127 Y>S No ExAC
gnomAD
TCGA novel 131 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1232627325 132 Y>F No gnomAD
rs1355988571 133 D>E No gnomAD
rs1778947291 133 D>N No Ensembl
rs1778947015 134 T>S No gnomAD
rs2127994905 136 R>G No Ensembl
rs1251015381 136 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1397911143 137 N>D No gnomAD
rs1318584442
COSM1082675
COSM4864989
 138 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
VAR_022105
rs2278107
 138 I>V No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM4864872
COSM1082673
 140 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3749990
COSM4782533
 140 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs548216830 141 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs2127994890 141 N>T No Ensembl
rs200025945 142 L>I No 1000Genomes
ExAC
gnomAD
rs1778945237 142 L>R No TOPMed
rs1240239966 143 Y>C No TOPMed
rs781143231 143 Y>H No ExAC
gnomAD
rs2127994879 144 V>L No Ensembl
TCGA novel 149 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1446502
COSM4785916
 151 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4906240
COSM3630627
 153 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1484097577 153 E>Q No TOPMed
rs779024743 157 Q>P No ExAC
gnomAD
COSM4922579
COSM4922578
rs1286516366
 158 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1778942474 159 D>Y No Ensembl
rs1582691994 165 M>V No Ensembl
COSM3941882
rs754092318
 166 K>R oesophagus [Cosmic] No cosmic curated
ExAC
gnomAD
rs1778941480 169 T>I No Ensembl
VAR_042150 170 E>K a colorectal adenocarcinoma sample; somatic mutation [UniProt] No UniProt
rs1241523900 172 R>G No TOPMed
gnomAD
rs1444159555 173 E>G No TOPMed
rs1562167396 173 E>K No TOPMed
rs753104602 175 G>V No ExAC
TOPMed
gnomAD
rs1778939989 176 P>T No Ensembl
rs770996678 177 L>S No Ensembl
rs1778939683 178 S>F No TOPMed
rs1323379573 179 K>E No Ensembl
TCGA novel 180 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3630626
COSM4891761
 181 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1778938900 183 Y>C No TOPMed
rs1418432799 183 Y>H No TOPMed
gnomAD
COSM4861184
rs760168204
COSM743812
 184 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs760168204 184 L>V No ExAC
gnomAD
rs765994473 187 Q>H No ExAC
TOPMed
gnomAD
rs2127994778 189 V>A No Ensembl
rs2127994778 189 V>E No Ensembl
rs1395960850 189 V>I No TOPMed
gnomAD
rs2127994773 190 G>V No Ensembl
TCGA novel 190 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 192 C>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2127994760 192 C>W No Ensembl
rs2127994763 192 C>Y No Ensembl
rs1467878949 193 I>L No TOPMed
rs1467878949 193 I>V No TOPMed
COSM743813
COSM4861374
rs2127994750
 194 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127994750 194 A>S No Ensembl
rs1329911899 195 L>F No gnomAD
rs944145438 196 V>F No Ensembl
rs944145438 196 V>I No Ensembl
rs944145438 196 V>L No Ensembl
rs2127994735 197 S>F No Ensembl
rs2127994725 198 V>A No Ensembl
rs772940573 198 V>I No ExAC
TOPMed
gnomAD
rs2127994717 199 K>I No Ensembl
TCGA novel 199 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1169985049 200 V>A No gnomAD
rs1169985049 200 V>E No gnomAD
rs2127994703 201 Y>* No Ensembl
rs1778936680 201 Y>C No TOPMed
rs1778936680 201 Y>F No TOPMed
rs2127994692 202 Y>* No Ensembl
rs1446975884 202 Y>F No TOPMed
gnomAD
rs2127994700 202 Y>N No Ensembl
COSM3831252
COSM3831251
 203 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377435864 203 K>M No ESP
ExAC
TOPMed
gnomAD
rs1778936323
COSM256864
 203 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No TOPMed
NCI-TCGA Cosmic
rs377435864 203 K>R No ESP
ExAC
TOPMed
gnomAD
rs2127994673 204 K>N No Ensembl
rs2127994678 204 K>R No Ensembl
rs2127994668 205 C>F No Ensembl
rs1373965971 205 C>W No TOPMed
rs2127994657 206 W>C No Ensembl
rs2127994662
COSM70628
 206 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127994663 206 W>R No Ensembl
rs1778936009 207 S>C No TOPMed
COSM35538
rs1778936009
COSM4905990
 207 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2127994647 208 I>F No Ensembl
rs2127994644 208 I>N No Ensembl
rs776462833 209 I>T No ExAC
gnomAD
rs761641519 209 I>V No ExAC
gnomAD
COSM3831250
COSM3831249
 210 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127994625 210 E>D No Ensembl
rs2127994628 210 E>G No Ensembl
rs2127994628 210 E>V No Ensembl
rs2127994617 211 N>I No Ensembl
rs2127994612 211 N>K No Ensembl
rs2127994617 211 N>S No Ensembl
rs2127994624 211 N>Y No Ensembl
rs2127994607 212 L>F No Ensembl
rs2127994600 213 A>G No Ensembl
rs2127994604 213 A>P No Ensembl
rs1778934817 214 I>M No Ensembl
rs958285932 214 I>N No TOPMed
rs532369845 214 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1778934644 216 P>A No Ensembl
rs1778934644 216 P>S No Ensembl
rs2127994583 217 D>E No Ensembl
rs2127994589 217 D>H No Ensembl
rs2127994576 218 T>I No Ensembl
rs2127994576 218 T>R No Ensembl
rs2127994580 218 T>S No Ensembl
rs2127994570 220 T>S No Ensembl
rs2127994566 220 T>S No Ensembl
rs1207755122 221 G>A No TOPMed
rs2127994558 221 G>C No Ensembl
rs1207755122 221 G>D No TOPMed
rs2127994558 221 G>R No Ensembl
rs1207755122 221 G>V No TOPMed
rs1778934322 222 S>* No TOPMed
rs1778934322 222 S>L No TOPMed
rs2127994550 222 S>T No Ensembl
rs778894011 223 E>D No ExAC
gnomAD
rs2127994547 223 E>K No Ensembl
rs2127994547 223 E>Q No Ensembl
rs2127994545 223 E>V No Ensembl
TCGA novel 225 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3630625
COSM4891873
 225 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127994525 226 S>C No Ensembl
rs2127994525 226 S>F No Ensembl
rs2127994529 226 S>P No Ensembl
rs2127994529 226 S>T No Ensembl
rs923934722 227 L>V No TOPMed
gnomAD
rs2127994518 228 V>F No Ensembl
rs2127994518 228 V>L No Ensembl
rs1216099858 229 E>* No gnomAD
rs1342512195 229 E>D No gnomAD
rs1778932726 229 E>G No Ensembl
rs1216099858 229 E>K No gnomAD
rs1216099858 229 E>Q No gnomAD
rs1778932726 229 E>V No Ensembl
rs2127994500 230 V>D No Ensembl
rs2127994500 230 V>G No Ensembl
rs1050292701 230 V>I No TOPMed
gnomAD
rs1050292701 230 V>L No TOPMed
gnomAD
COSM4357512
rs749418654
COSM1718750
 231 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749418654 231 R>G No ExAC
TOPMed
gnomAD
rs778087526 231 R>P No ExAC
TOPMed
gnomAD
rs778087526 231 R>Q No ExAC
TOPMed
gnomAD
rs2127994467 232 G>A No Ensembl
rs2127994467 232 G>E No Ensembl
rs2127994473
VAR_042151
 232 G>R a metastatic melanoma sample; somatic mutation [UniProt] No Ensembl
UniProt
rs2127994467 232 G>V No Ensembl
rs753087941 233 T>I No ExAC
TOPMed
gnomAD
rs753087941 233 T>R No ExAC
TOPMed
gnomAD
rs2127994462 233 T>S No Ensembl
rs1345265318 234 C>* No gnomAD
rs2127994455 234 C>R No Ensembl
rs2127994453 234 C>S No Ensembl
rs1345265318 234 C>W No gnomAD
rs2127994445 235 V>D No Ensembl
rs2127994445 235 V>G No Ensembl
rs1319640969 235 V>I No gnomAD
rs1319640969 235 V>L No gnomAD
rs2127994437 236 S>C No Ensembl
rs2127994437 236 S>G No Ensembl
rs2127994434 236 S>N No Ensembl
rs2127994429 236 S>R No Ensembl
rs2127994434 236 S>T No Ensembl
rs2127994426 237 S>R No Ensembl
rs2127994419 238 A>E No Ensembl
rs2127994419 238 A>G No Ensembl
rs2127994424 238 A>T No Ensembl
rs2127994419 238 A>V No Ensembl
rs2127994410 239 E>K No Ensembl
rs2127994408 240 E>K No Ensembl
rs2127994408 240 E>Q No Ensembl
rs1778930410 241 E>A No TOPMed
gnomAD
rs374346880 241 E>D No ESP
ExAC
TOPMed
gnomAD
rs1465849290 241 E>K No TOPMed
gnomAD
rs1465849290 241 E>Q No TOPMed
gnomAD
rs370195460 242 A>E No ESP
ExAC
TOPMed
gnomAD
rs370195460 242 A>G No ESP
ExAC
TOPMed
gnomAD
rs2127994393 242 A>P No Ensembl
rs370195460 242 A>V No ESP
ExAC
TOPMed
gnomAD
rs2127994379 243 E>G No Ensembl
rs2127994383 243 E>K No Ensembl
rs2127994383 243 E>Q No Ensembl
rs2127994375 244 N>D No Ensembl
rs2127994375 244 N>H No Ensembl
rs147242531 244 N>K No ESP
ExAC
TOPMed
gnomAD
rs989431209 244 N>S No gnomAD
rs2127994375 244 N>Y No Ensembl
rs2127994365 245 A>D No Ensembl
rs2127994365 245 A>G No Ensembl
rs41273629 245 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41273629 245 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2127994365
TCGA novel
 245 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1455705870 246 P>A No TOPMed
gnomAD
rs2127994356 246 P>H No Ensembl
rs2127994356 246 P>R No Ensembl
rs1455705870 246 P>T No TOPMed
gnomAD
rs953155139 247 R>G No TOPMed
gnomAD
rs2127994345 247 R>K No Ensembl
rs2127994345 247 R>M No Ensembl
rs2127994342 247 R>S No Ensembl
rs761433457 248 M>I No ExAC
gnomAD
rs2127994334 248 M>K No Ensembl
rs2127994334 248 M>R No Ensembl
rs2127994339 248 M>V No Ensembl
rs2127994330 249 H>N No Ensembl
rs1219521062 249 H>P No TOPMed
rs1469620212 249 H>Q No gnomAD
rs1219521062 249 H>R No TOPMed
rs2127994330 249 H>Y No Ensembl
rs1233372560 250 C>* No gnomAD
rs2127994324 250 C>F No Ensembl
rs2127994328 250 C>S No Ensembl
rs2127994324 250 C>S No Ensembl
rs1233372560 250 C>W No gnomAD
rs2127994324 250 C>Y No Ensembl
rs1206466692 251 S>N No TOPMed
gnomAD
rs2127994318 251 S>R No Ensembl
rs1206466692 251 S>T No TOPMed
gnomAD
rs2127994308 252 A>E No Ensembl
rs2127994308 252 A>G No Ensembl
rs2127994316 252 A>S No Ensembl
rs2127994316 252 A>T No Ensembl
rs2127994308 252 A>V No Ensembl
rs2127994303 253 E>D No Ensembl
rs2127994299 255 E>* No Ensembl
rs2127994297 255 E>G No Ensembl
COSM743814
COSM4862828
rs2127994299
 255 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1778927708 256 W>* No Ensembl
rs2127994290 256 W>C No Ensembl
rs2127994296 256 W>R No Ensembl
rs2127994285 257 L>* No Ensembl
rs2127994287 257 L>I No Ensembl
rs1436208211 258 V>E No Ensembl
rs2127994282 258 V>L No Ensembl
rs2127994273
TCGA novel
 259 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2127994269 259 P>H No Ensembl
rs2127994269 259 P>L No Ensembl
rs2127994269 259 P>R No Ensembl
rs2127994273
TCGA novel
 259 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2127994273 259 P>T No Ensembl
rs1306506164 260 I>T No gnomAD
rs1349574955 260 I>V No TOPMed
gnomAD
rs2127994251 261 G>R No Ensembl
rs140191777 264 I>V No ESP
ExAC
TOPMed
gnomAD
rs1374774567 267 A>E No gnomAD
COSM4903999
COSM3630622
 270 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749356915 271 Q>P No ExAC
rs770043619 273 G>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs1429079813 273 G>A No TOPMed
gnomAD
COSM4747635
COSM4747634
 273 G>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770043619 273 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1429079813 273 G>V No TOPMed
gnomAD
rs748445630 274 D>E No ExAC
gnomAD
rs1313843472 274 D>G No TOPMed
gnomAD
rs990509658 275 T>A No gnomAD
rs1778924177 277 E>K No Ensembl
rs1215429530 278 P>H No TOPMed
gnomAD
rs2278106
VAR_022106
RCV001636173
 278 P>S No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM4813795
COSM451945
 279 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1364312999 279 C>Y No gnomAD
rs778426683 280 G>D No ExAC
gnomAD
rs149408123 281 R>C No ESP
ExAC
TOPMed
gnomAD
rs1056840976 281 R>H No TOPMed
gnomAD
rs1056840976 281 R>L No TOPMed
gnomAD
rs1056840976 281 R>P No TOPMed
gnomAD
rs1562122391 282 G>E No Ensembl
TCGA novel 282 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2127947049 283 F>L No Ensembl
rs755813766 284 Y>C No ExAC
gnomAD
rs202168283 284 Y>H No ESP
ExAC
TOPMed
gnomAD
rs1169442219 285 K>E No gnomAD
rs2127947028 287 S>F No Ensembl
rs767281324 288 S>F No ExAC
gnomAD
COSM4812231
COSM421199
 289 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127947020 289 Q>E No Ensembl
rs1191295608 289 Q>R No gnomAD
rs1562122316 290 D>G No Ensembl
rs1313085656 290 D>N No gnomAD
COSM3876210
COSM3876209
 290 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1467643679 291 L>H No gnomAD
COSM3922259
COSM3922258
rs760111731
 292 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs760111731 292 Q>E No Ensembl
rs1160114110 292 Q>R No TOPMed
rs1776062537 294 S>F No gnomAD
rs375147203 295 R>C No ESP
ExAC
gnomAD
rs765322526 295 R>H No ExAC
gnomAD
TCGA novel 295 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs938343635 297 P>L No TOPMed
TCGA novel 297 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776903613 298 T>A No ExAC
gnomAD
rs776903613 298 T>P No ExAC
gnomAD
rs1205658610 299 H>Y No TOPMed
gnomAD
rs1309546660 302 S>P No gnomAD
rs1776061153 303 D>N No Ensembl
COSM4832139
COSM4832138
 305 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768989326 306 G>A No ExAC
TOPMed
gnomAD
rs41273627 306 G>S No Ensembl
rs768989326 306 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs909460037 309 R>G No Ensembl
rs1233763479 310 C>F No gnomAD
TCGA novel 311 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747304855 311 E>K No ExAC
gnomAD
COSM6107501
COSM6107500
 312 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs113701581 314 D>E No ExAC
rs1305662700 316 Y>H No TOPMed
gnomAD
rs1305662700 316 Y>N No TOPMed
gnomAD
TCGA novel
rs1776059879
 318 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs772334549 318 R>T No ExAC
TOPMed
gnomAD
rs138876328 319 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
gnomAD
rs779315809 319 A>V No ExAC
gnomAD
rs757798599 320 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs748773525 321 S>Y No ExAC
gnomAD
rs1582588608 322 D>A No Ensembl
rs1171397060 322 D>E No TOPMed
gnomAD
rs1453370957 323 P>L No gnomAD
rs1395209134 324 P>L No gnomAD
COSM4786342
COSM1446498
 324 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3630620
COSM4891821
 324 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1776057623 325 Y>C No gnomAD
rs1194925755 325 Y>H No gnomAD
rs1776057084 326 V>D No gnomAD
rs150543233 326 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1776056576 329 T>R No TOPMed
gnomAD
rs1413927391 330 R>K No TOPMed
gnomAD
TCGA novel 331 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200873598 331 P>T No Ensembl
TCGA novel 332 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs892457234 335 P>S No Ensembl
rs1380130381 336 Q>E No gnomAD
rs1158620225 339 I>F No TOPMed
gnomAD
rs1158620225 339 I>V No TOPMed
gnomAD
rs1775981244 341 N>D No gnomAD
rs758347037 341 N>I No ExAC
gnomAD
rs750403324 343 N>S No ExAC
TOPMed
gnomAD
rs1164758223 344 Q>R No gnomAD
rs1475740786 346 T>A No gnomAD
rs764217573 347 V>L No ExAC
TOPMed
gnomAD
rs1775980305 348 S>G No Ensembl
COSM4899277
COSM3630619
 350 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1191331342 353 P>S No gnomAD
rs1191331342 353 P>T No gnomAD
rs2127944970 355 A>E No Ensembl
rs2127944970 355 A>V No Ensembl
rs1775979799 357 N>D No TOPMed
rs1582585734 357 N>S No Ensembl
rs759223701 359 G>E No Ensembl
rs145247136 361 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774694250 363 V>M No ExAC
TOPMed
gnomAD
rs1428092925 364 T>S No Ensembl
rs201390062 364 T>S No ESP
TOPMed
gnomAD
rs1302457908 366 R>K No TOPMed
rs763391728 366 R>S No ExAC
gnomAD
rs140214296 368 L>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 368 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 370 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs138769019 371 R>L No ESP
ExAC
TOPMed
gnomAD
rs138769019 371 R>Q No ESP
ExAC
TOPMed
gnomAD
VAR_036090
rs371089003
 371 R>W a colorectal cancer sample; somatic mutation [UniProt] No UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780813699 372 C>Y No ExAC
gnomAD
rs1391562093 373 S>C No TOPMed
gnomAD
rs772199348 373 S>I No ExAC
TOPMed
gnomAD
rs1391562093 373 S>R No TOPMed
gnomAD
rs772199348 373 S>T No ExAC
TOPMed
gnomAD
COSM4838051
COSM4838050
 374 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1228469813 375 E>G No TOPMed
gnomAD
rs779939317 376 Q>P No ExAC
TOPMed
gnomAD
rs779939317 376 Q>R No ExAC
TOPMed
gnomAD
rs758293765 377 G>D No ExAC
gnomAD
rs778960808 378 E>K No ExAC
rs778960808 378 E>Q No ExAC
COSM6107502
COSM6107503
 379 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs930359353 380 V>I No Ensembl
rs1475247277 383 G>R No TOPMed
gnomAD
rs1775974480 384 S>N No TOPMed
rs757264200 385 N>D No ExAC
TOPMed
gnomAD
rs757264200 385 N>H No ExAC
TOPMed
gnomAD
rs918912377 385 N>K No TOPMed
gnomAD
rs1252412601 386 I>T No gnomAD
rs1452664406 386 I>V No gnomAD
rs1355103404 387 G>R No TOPMed
rs1240393280 389 M>I No TOPMed
rs1218588481 389 M>K No TOPMed
gnomAD
rs752702243 389 M>V No ExAC
TOPMed
gnomAD
rs1775972976 391 Q>K No Ensembl
rs767702045 392 Q>E No ExAC
gnomAD
COSM743815
COSM4859467
 392 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4905765
COSM3630616
 394 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs971828200 395 L>V No TOPMed
gnomAD
COSM272642 396 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1775972514 396 E>A No TOPMed
rs1182610695 397 D>E No TOPMed
rs755089288 397 D>G No ExAC
TOPMed
gnomAD
rs1168434262 399 Y>C No gnomAD
rs1775971228 400 V>A No TOPMed
rs2127944796 401 T>A No Ensembl
rs751791155 404 D>G No ExAC
TOPMed
gnomAD
rs1270412615 406 L>P No gnomAD
TCGA novel 407 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1775970535 407 A>T No Ensembl
rs1368174232 408 H>N No TOPMed
gnomAD
COSM1082669
rs145928664
 408 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1418489484 409 A>G No gnomAD
rs1402331883 409 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1402331883 409 A>T No TOPMed
gnomAD
TCGA novel 410 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4847703
COSM4847702
 416 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1397320389 418 V>L No TOPMed
gnomAD
rs1327337269 419 N>S No gnomAD
rs1775968290 421 V>I No gnomAD
COSM4393164
COSM4393165
 422 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1169903293 423 D>G No gnomAD
rs1775967400
COSM48865
 426 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs542602078 426 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs542602078 426 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs542602078 426 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs866023703 427 S>F No Ensembl
rs149093618 428 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771888219 429 R>K No ExAC
gnomAD
rs1179484555 430 L>F No TOPMed
gnomAD
rs199839585 430 L>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs1582585159 431 F>V No Ensembl
rs1273384862 434 V>I No gnomAD
rs144991363 435 S>C No ESP
ExAC
gnomAD
rs144991363 435 S>G No ESP
ExAC
gnomAD
rs749253547 436 I>V No ExAC
TOPMed
gnomAD
rs1234366311 439 G>S No gnomAD
COSM6175035
COSM6175036
 440 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 441 A>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs781072828 441 A>T No ExAC
TOPMed
gnomAD
rs1378155962 442 A>P No TOPMed
rs773950345 444 S>L No ExAC
TOPMed
gnomAD
rs749130416 445 Q>K No ExAC
TOPMed
gnomAD
rs1562059593 448 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs769773179 448 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1771271575 449 V>G No Ensembl
rs1400112416
COSM3922257
COSM3922256
 450 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs754573060 450 M>R No Ensembl
rs754573060 450 M>T No Ensembl
rs758549619 451 K>E No ExAC
gnomAD
rs201935163 452 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1164322567 452 E>G No TOPMed
rs147680635 453 R>G No ESP
ExAC
TOPMed
gnomAD
TCGA novel 453 R>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs779416238 457 R>L No ExAC
TOPMed
gnomAD
rs779416238 457 R>Q No ExAC
TOPMed
gnomAD
rs1484017296 457 R>W No gnomAD
rs1771268324 458 S>N No Ensembl
rs1771268491 458 S>R No Ensembl
rs191102962 459 V>A No 1000Genomes
TCGA novel 460 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4357488
COSM1205479
rs1448138791
 460 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs555480655 462 S>A No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4357487
COSM3178863
 462 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1231930557 463 W>R No gnomAD
rs1334631229 465 E>K No gnomAD
rs1294264997 466 P>Q No gnomAD
TCGA novel 466 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM6175038
COSM6175037
 467 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1332501890 467 E>K No TOPMed
gnomAD
rs1332501890 467 E>Q No TOPMed
gnomAD
rs1771266349 467 E>V No TOPMed
rs774074768 469 P>R No ExAC
gnomAD
rs1771265834 470 N>S No gnomAD
rs1232168679 472 V>A No TOPMed
rs1431588483 473 I>V No TOPMed
gnomAD
rs1771265031 474 T>A No gnomAD
rs762787694 475 E>* No ExAC
gnomAD
TCGA novel 475 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762787694 475 E>K No ExAC
gnomAD
rs762787694 475 E>Q No ExAC
gnomAD
rs1459766148 476 Y>C No gnomAD
rs1165179670 477 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1771264182 478 I>L No Ensembl
rs369681580 480 Y>C No ESP
ExAC
TOPMed
gnomAD
COSM70627 482 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs867625037
COSM4895548
COSM4895549
 482 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs867625037 482 E>Q No TOPMed
gnomAD
rs371905556 485 Q>E No ESP
rs1771113438 487 E>D No TOPMed
gnomAD
rs776583281 487 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1289972813 487 E>V No TOPMed
gnomAD
rs968186662 488 R>P No TOPMed
gnomAD
rs968186662 488 R>Q No TOPMed
gnomAD
rs139833485 488 R>W No 1000Genomes
ESP
ExAC
gnomAD
rs1371749537 489 T>I No gnomAD
COSM3831247
COSM3831248
 491 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127877662 492 T>I No Ensembl
rs1388409740 493 V>L No gnomAD
COSM5011647
COSM5011646
 494 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1771112023 498 T>S No Ensembl
rs1277605416 500 A>T No TOPMed
gnomAD
COSM3630613
rs749473870
COSM4891847
 501 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1372005745 502 I>V No gnomAD
rs267601170 504 N>I No Ensembl
rs1771110726 504 N>K No Ensembl
rs1771110518 507 P>A No Ensembl
rs1771110518 507 P>S No Ensembl
COSM4893666
rs2127877576
COSM3630612
 508 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127877583 508 G>R No Ensembl
rs778224828 510 V>A No ExAC
TOPMed
gnomAD
rs778224828 510 V>E No ExAC
TOPMed
gnomAD
TCGA novel 510 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 511 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 512 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 513 F>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1377657771 514 Q>H No gnomAD
rs756567371 514 Q>R No ExAC
gnomAD
rs1178898166 515 I>V No TOPMed
gnomAD
rs2127877543 516 R>Q No 1000Genomes
COSM4979814
COSM4979815
 516 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1264422608 518 F>V No gnomAD
rs986768697 520 A>D No Ensembl
rs1771109152 520 A>T No Ensembl
rs1417829621 521 A>S No gnomAD
rs954614070 523 Y>H No TOPMed
gnomAD
rs954614070 523 Y>N No TOPMed
gnomAD
rs748625367 524 G>A No ExAC
gnomAD
rs569672013 525 N>H No 1000Genomes
ExAC
gnomAD
rs369029096 526 Y>C No ESP
ExAC
TOPMed
gnomAD
rs1771107783 527 S>G No Ensembl
COSM280831 527 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1771107622 527 S>T No TOPMed
rs1348732539 529 R>G No TOPMed
gnomAD
rs1288102655 530 L>H No TOPMed
rs1771106437 533 A>P No Ensembl
TCGA novel 535 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1009626356
COSM3922255
COSM232257
 537 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1771105192 542 M>I No TOPMed
rs1771105435 542 M>K No TOPMed
rs1355331916 543 F>L No gnomAD
rs1000520166 546 T>I No Ensembl
rs1380030438 547 A>D No gnomAD
rs148781580 547 A>P No ESP
gnomAD
rs148781580 547 A>T No ESP
gnomAD
rs1380030438
COSM4992797
COSM4992796
 547 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs934498317 550 S>G No Ensembl
rs1770846171 550 S>I No TOPMed
rs928479836 552 Q>E No Ensembl
rs1459246528 552 Q>H No TOPMed
gnomAD
rs756964921 552 Q>R No ExAC
TOPMed
gnomAD
rs1164650086 555 V>A No gnomAD
rs753621830 559 A>V No ExAC
rs1770844479 560 V>M No TOPMed
rs1770844177 561 V>A No TOPMed
COSM6107507
COSM6107506
 565 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM70626
rs77295523
 566 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1428020526 567 I>M No gnomAD
rs760600822 567 I>V No ExAC
TOPMed
gnomAD
rs1770843504 568 I>V No TOPMed
rs773473690 570 V>A No ExAC
gnomAD
rs762911058 570 V>L No ExAC
gnomAD
rs762911058 570 V>M No ExAC
gnomAD
rs770136433 572 M>L No ExAC
gnomAD
TCGA novel 572 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1770842692 573 V>A No Ensembl
TCGA novel 575 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs546509392 576 F>V No Ensembl
rs1562053469 577 I>V No Ensembl
rs1391451187 578 I>T No TOPMed
gnomAD
rs1377724860 578 I>V No TOPMed
gnomAD
rs1770841488 579 G>E No TOPMed
rs1356700106 579 G>W No gnomAD
rs1041561838 580 R>* No TOPMed
COSM1082665
COSM4866646
 581 R>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777573184 583 C>G No ExAC
gnomAD
rs755890860 584 G>V No ExAC
gnomAD
rs1036447486 586 S>R No TOPMed
gnomAD
rs1432954439 587 K>E No gnomAD
rs1770806253 589 D>G No TOPMed
gnomAD
COSM3831246
COSM3831245
 589 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1582410223 590 Q>H No TOPMed
rs767334617 591 E>G No ExAC
gnomAD
rs750462795 593 D>N No ExAC
gnomAD
rs1483753655 595 E>* No gnomAD
rs1483753655 595 E>Q No gnomAD
rs1770805076 597 Y>H No TOPMed
COSM4396303
COSM4396304
rs1179394255
 599 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2127860659 600 F>C No Ensembl
TCGA novel 601 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1251347 601 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748898049 602 F>L No ExAC
TOPMed
gnomAD
COSM3876205
COSM3876206
 602 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4402213
COSM3630609
rs868510824
 603 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs777258745 605 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1236447200 607 T>A No gnomAD
rs755839039 609 I>T No ExAC
gnomAD
TCGA novel 609 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs376168086 613 T>I No ESP
ExAC
TOPMed
gnomAD
rs1282784862 613 T>P No TOPMed
gnomAD
rs1330278383 614 Y>C No gnomAD
COSM3995163
COSM3995162
 615 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1770589860 615 E>K No Ensembl
rs1562049937 616 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs373264389 617 P>L No ESP
ExAC
TOPMed
gnomAD
rs373264389 617 P>Q No ESP
ExAC
TOPMed
gnomAD
COSM4785646
COSM1446489
 618 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs946160133 618 N>K No TOPMed
rs751571551 619 R>G No ExAC
gnomAD
rs1770588980 620 A>S No TOPMed
gnomAD
rs1487499869 621 V>A No TOPMed
rs200277966 622 H>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs200277966 622 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1770588510 623 Q>K No Ensembl
rs754002431 623 Q>L No ExAC
TOPMed
gnomAD
rs149602525 625 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149602525 625 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6175040
COSM6175039
 626 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1160371803 629 D>G No TOPMed
COSM4813037
COSM451944
 629 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1412626348 630 A>D No gnomAD
rs139211112 631 S>T No ESP
ExAC
TOPMed
gnomAD
TCGA novel 632 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1770586775 634 K>I No TOPMed
rs1239820687 634 K>N No gnomAD
rs1770586549 635 I>T No TOPMed
rs1188528023 636 E>K No gnomAD
rs1270476760 637 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs774868013 637 R>H No ExAC
TOPMed
gnomAD
rs1360471715 638 V>M No TOPMed
rs771465590 639 I>T No ExAC
TOPMed
gnomAD
rs1770585746 639 I>V No Ensembl
rs531906513 640 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs531906513 640 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs992785889 641 A>S No TOPMed
gnomAD
rs992785889 641 A>T No TOPMed
gnomAD
rs766856886
COSM1697648
COSM5608521
 642 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2127859217 643 E>A No Ensembl
rs367646826 645 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367646826 645 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1582401525 645 G>V No Ensembl
rs1019151131 646 E>A No TOPMed
rs534228190 646 E>K No 1000Genomes
rs769370190 648 C>F No ExAC
TOPMed
gnomAD
TCGA novel 649 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1193284113 649 S>R No gnomAD
rs1770530827 650 G>D No TOPMed
rs571637670 651 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs776394413 651 R>H No ExAC
TOPMed
gnomAD
rs776394413 651 R>L No ExAC
TOPMed
gnomAD
rs571637670 651 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1206076675 652 L>F No TOPMed
gnomAD
rs1484095270 653 K>I No gnomAD
rs768474651 655 P>A No ExAC
TOPMed
gnomAD
rs1316144079 655 P>R No TOPMed
gnomAD
COSM1082660
COSM4870279
rs768474651
 655 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
COSM3922254
COSM3922253
 656 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1231037263 656 G>R No gnomAD
COSM98136 656 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1277577151 657 K>R No TOPMed
gnomAD
rs1311518360 658 R>K No TOPMed
gnomAD
rs1311518360 658 R>T No TOPMed
gnomAD
COSM4782548
COSM3749989
 659 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780064217 660 V>F No ExAC
TOPMed
gnomAD
rs780064217 660 V>I No ExAC
TOPMed
gnomAD
rs758348899 661 A>S No ExAC
rs745827385 661 A>V No ExAC
gnomAD
rs202223312 662 V>I No ExAC
TOPMed
gnomAD
rs202223312 662 V>L No ExAC
TOPMed
gnomAD
rs953493697 663 A>T No TOPMed
rs1770527799 663 A>V No Ensembl
rs1263935491 664 I>L No TOPMed
gnomAD
rs1770527266 664 I>M No TOPMed
rs1300555214 664 I>T No TOPMed
gnomAD
rs767702926 666 T>I No ExAC
gnomAD
rs2127859101 667 L>M No Ensembl
rs1415493097 668 K>Q No gnomAD
rs766734179 669 V>A No ExAC
TOPMed
gnomAD
rs751915816 669 V>L No ExAC
gnomAD
COSM6175042
COSM6175041
 670 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1458314724 671 Y>* No TOPMed
gnomAD
rs1206527280 672 T>A No TOPMed
rs1231158173 674 K>E No Ensembl
rs201814256 675 Q>K No ExAC
TOPMed
gnomAD
rs146203229 675 Q>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373761211 676 R>K No ESP
ExAC
TOPMed
gnomAD
rs760411632 676 R>S No ExAC
gnomAD
rs373761211 676 R>T No ESP
ExAC
TOPMed
gnomAD
TCGA novel 677 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1770524764 678 D>E No TOPMed
COSM4897388
rs1256527658
COSM3630606
 678 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM1082658
COSM4872453
 679 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1770524334 680 L>V No TOPMed
gnomAD
rs771918424 681 C>Y No ExAC
TOPMed
gnomAD
rs1228694029 684 S>G No gnomAD
rs1353290090 684 S>I No TOPMed
rs1228694029 684 S>R No gnomAD
rs1770523323 685 I>V No TOPMed
rs1770523043 686 M>R No Ensembl
rs1770523188 686 M>V No TOPMed
rs1284327490 690 D>G No TOPMed
rs778876357 692 P>A No ExAC
gnomAD
rs770820190 692 P>L No ExAC
gnomAD
rs1770521941 693 N>S No TOPMed
gnomAD
rs569112388 694 V>I No 1000Genomes
ExAC
gnomAD
COSM597707
COSM4871270
 696 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1045593838 696 H>P No TOPMed
rs1045593838 696 H>R No TOPMed
rs1770521274 698 E>A No Ensembl
COSM1697647
rs138518092
COSM4893650
 698 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1388428555 700 V>D No gnomAD
rs1770521024 700 V>I No TOPMed
TCGA novel 701 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1770520511 702 T>A No Ensembl
rs1423543958 702 T>K No gnomAD
rs370400794 703 R>I No Ensembl
COSM4897516
COSM3630605
 704 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749228043 706 P>L No ExAC
gnomAD
rs749228043
TCGA novel
 706 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs1008162814 706 P>S No Ensembl
rs1247358846 708 M>I No gnomAD
TCGA novel 708 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1770491622 708 M>V No Ensembl
rs889594472 709 I>L No TOPMed
gnomAD
rs1307419633 709 I>T No TOPMed
gnomAD
rs1365931416 710 V>A No TOPMed
rs781190788 711 I>T No ExAC
gnomAD
rs1406597161 712 E>G No TOPMed
rs747133463 713 F>I No ExAC
gnomAD
rs747133463 713 F>L No ExAC
gnomAD
rs1208917339 714 M>I No gnomAD
rs1050029945 714 M>L No Ensembl
rs370612964 714 M>T No ESP
ExAC
TOPMed
gnomAD
rs150176645 715 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1770490108 718 A>V No TOPMed
rs376794821 720 D>E No ESP
ExAC
TOPMed
gnomAD
rs983485848 720 D>G No TOPMed
gnomAD
rs1770489462 721 A>S No Ensembl
rs1770489358 721 A>V No Ensembl
COSM3876204
COSM3876203
 724 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4897255
COSM3630603
 724 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775497224 726 H>R No ExAC
gnomAD
COSM4893609
COSM3630602
 727 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746088117 728 G>R No ExAC
TOPMed
gnomAD
COSM4810982
rs1270091812
COSM1312457
 731 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1770427495 733 I>V No Ensembl
rs749714596 734 Q>R No ExAC
TOPMed
gnomAD
rs1327213322 737 G>E No gnomAD
rs1208009700
COSM48342
 738 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1770426537 738 M>T No Ensembl
rs752253692 741 G>R No ExAC
gnomAD
rs1770425887 742 I>T No Ensembl
rs1770426017 742 I>V No gnomAD
TCGA novel 743 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1243702457 744 A>G No TOPMed
rs1770425622 744 A>T No TOPMed
rs1484087506 746 M>I No TOPMed
gnomAD
rs183610251 748 Y>C No 1000Genomes
ExAC
gnomAD
rs1770424725 748 Y>H No TOPMed
rs1405423810 750 A>T No gnomAD
rs2127856626 751 D>V No Ensembl
rs1419285880 752 M>V No TOPMed
COSM4903784
COSM4903785
 753 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1392330402 753 G>R No TOPMed
gnomAD
rs1770423590 753 G>V No Ensembl
rs751194338 757 R>K No ExAC
TOPMed
gnomAD
rs1770423314 758 D>N No TOPMed
COSM3630599
COSM4905524
 762 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762713500 762 R>H No ExAC
gnomAD
rs1770422912 763 N>D No Ensembl
rs1472053844 763 N>S No gnomAD
rs1770422508 764 I>N No TOPMed
rs773047453 764 I>V No ExAC
gnomAD
rs1440140016 769 N>S No TOPMed
gnomAD
rs964339668 770 L>F No TOPMed
rs746058123 771 V>I No ExAC
gnomAD
rs771331966 772 C>G No ExAC
TOPMed
gnomAD
rs1281423342 773 K>E No TOPMed
gnomAD
rs141289390 778 G>S No ESP
ExAC
TOPMed
gnomAD
rs1408104586 780 S>P No gnomAD
rs1327105282 781 R>* No TOPMed
gnomAD
rs372024057 781 R>L No ESP
ExAC
TOPMed
gnomAD
rs372024057 781 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1178526425 783 I>T No gnomAD
rs751128749 783 I>V No ExAC
TOPMed
gnomAD
rs1770418775 785 D>G No Ensembl
rs1770418490 787 P>S No gnomAD
TCGA novel 788 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2127856499 789 A>V No Ensembl
rs1770417891 791 Y>* No Ensembl
rs758111523 791 Y>C No ExAC
gnomAD
rs1214294974 791 Y>D No gnomAD
rs758111523 791 Y>F No ExAC
gnomAD
TCGA novel 791 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1562047011 792 T>K No gnomAD
rs1644838588 792 T>S No TOPMed
rs1770417513 794 T>A No TOPMed
rs1770417513 794 T>P No TOPMed
rs773655407 795 G>D No ExAC
TOPMed
gnomAD
rs773655407 795 G>V No ExAC
TOPMed
gnomAD
rs1435219791 796 G>E No Ensembl
COSM4537152
COSM4537153
 796 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770305987 798 I>L No ExAC
gnomAD
COSM6107510
COSM6107511
 800 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1582395836 801 R>G No Ensembl
rs1770362959 801 R>K No Ensembl
COSM4167323
COSM4167324
 801 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs191032715 802 W>R No 1000Genomes
COSM3922249
COSM3922250
rs1219702649
 804 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1770362341 805 P>H No TOPMed
rs775779069
COSM4758893
COSM4758892
 806 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746495128 807 A>S No ExAC
gnomAD
COSM3928662
COSM3928661
 808 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4856998
COSM484459
 809 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757986575 809 Q>P No ExAC
TOPMed
gnomAD
rs757986575 809 Q>R No ExAC
TOPMed
gnomAD
rs147054938 811 R>L No ESP
ExAC
TOPMed
gnomAD
rs147054938 811 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1295357534 811 R>W No gnomAD
rs940477878 812 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
COSM3630598
COSM4904037
 814 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778636182 815 S>P No ExAC
gnomAD
rs145700620 816 A>D No ESP
ExAC
TOPMed
gnomAD
rs1770360912 816 A>S No Ensembl
rs145700620 816 A>V No ESP
ExAC
TOPMed
gnomAD
rs1433933397 818 D>V No TOPMed
gnomAD
rs1348945329 819 V>A No gnomAD
rs1770360432 819 V>I No Ensembl
COSM3630597
COSM4897408
 820 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs199833723 821 S>G No 1000Genomes
ExAC
gnomAD
rs1275298374 821 S>N No TOPMed
TCGA novel 821 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760735153 822 Y>C No ExAC
gnomAD
TCGA novel 822 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200484495 824 I>V No 1000Genomes
rs766582260 826 M>L No ExAC
rs1422163923 826 M>T No gnomAD
rs766582260 826 M>V No ExAC
TCGA novel 827 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 827 W>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs867402067 828 E>K No Ensembl
rs1770358334 829 V>A No TOPMed
rs1770358472 829 V>I No Ensembl
rs763219152 830 M>T No ExAC
gnomAD
rs773600194 832 Y>C No ExAC
gnomAD
rs568334270
COSM4904231
COSM3630596
 833 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1051471746 833 G>R No Ensembl
rs568334270 833 G>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6107513
COSM6107512
 834 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1304791200 836 P>T No gnomAD
rs1770357260 837 Y>C No TOPMed
gnomAD
rs1273984232 838 W>R No gnomAD
rs1342659278 843 Q>E No TOPMed
gnomAD
COSM4859319
COSM743818
 844 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777118725 844 D>V No ExAC
gnomAD
rs2127847329 845 V>D No Ensembl
rs1320953732 845 V>F No gnomAD
rs1320953732 845 V>I No gnomAD
rs1320953732 845 V>L No gnomAD
rs538121970 846 I>T No Ensembl
rs2127847321 847 K>* No Ensembl
rs2127847318 847 K>I No Ensembl
rs1347209840 847 K>N No Ensembl
rs2127847318 847 K>T No Ensembl
rs2127847310 848 A>E No Ensembl
rs2127847310 848 A>G No Ensembl
rs2127847310 848 A>V No Ensembl
rs2127847299 849 I>K No Ensembl
rs762098670 849 I>L No ExAC
TOPMed
gnomAD
rs2127847299 849 I>R No Ensembl
rs2127847299 849 I>T No Ensembl
rs762098670 849 I>V No ExAC
TOPMed
gnomAD
rs2127847292 850 E>D No Ensembl
rs1038362394 850 E>K No Ensembl
COSM4861971
rs1038362394
COSM743819
 850 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127847294 850 E>V No Ensembl
TCGA novel 851 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2127847286 851 E>D No Ensembl
rs2127847290 851 E>K No Ensembl
rs2127847290 851 E>Q No Ensembl
rs2127847288 851 E>V No Ensembl
rs1287261842 852 G>A No gnomAD
rs2127847284 852 G>C No Ensembl
COSM3876202
rs1287261842
COSM3876201
 852 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2127847284 852 G>R No Ensembl
rs2127847284 852 G>S No Ensembl
rs1301647844 853 Y>* No gnomAD
rs1374830452 853 Y>C No gnomAD
COSM743820
rs1465960814
COSM4481974
 854 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM3876199
COSM3876200
rs776802108
 854 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776802108 854 R>L No ExAC
TOPMed
gnomAD
rs776802108 854 R>P No ExAC
TOPMed
gnomAD
rs2127847254 855 L>* No Ensembl
rs2127847257 855 L>I No Ensembl
rs2127847248 856 P>A No Ensembl
rs2127847244 856 P>L No Ensembl
rs2127847244 856 P>Q No Ensembl
rs2127847244 856 P>R No Ensembl
rs2127847248 856 P>S No Ensembl
rs2127847248 856 P>T No Ensembl
rs2127847236 857 A>G No Ensembl
rs2127847239 857 A>P No Ensembl
rs2127847239 857 A>S No Ensembl
rs2127847239 857 A>T No Ensembl
rs2127847236 857 A>V No Ensembl
rs2127847227 858 P>A No Ensembl
rs2127847224 858 P>H No Ensembl
rs2127847224 858 P>L No Ensembl
rs2127847224 858 P>R No Ensembl
COSM3394355
rs2127847227
COSM4945846
 858 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127847219 859 M>I No Ensembl
rs200816651 859 M>K No TOPMed
gnomAD
rs1179028901 859 M>V No TOPMed
gnomAD
rs113927523 860 D>E No ExAC
TOPMed
gnomAD
rs2127847215 860 D>H No Ensembl
rs2127847215 860 D>N No Ensembl
rs2127847215 860 D>Y No Ensembl
rs2127847201 861 C>F No Ensembl
rs1393547166 861 C>R No Ensembl
rs2127847201 861 C>S No Ensembl
rs1393547166 861 C>S No Ensembl
rs2127847198 861 C>W No Ensembl
rs2127847201 861 C>Y No Ensembl
rs2127847194 862 P>A No Ensembl
rs2127847189 862 P>L No Ensembl
rs2127847189 862 P>Q No Ensembl
rs2127847189 862 P>R No Ensembl
rs2127847194 862 P>S No Ensembl
rs2127847194 862 P>T No Ensembl
rs2127847180 863 A>G No Ensembl
rs377619656 863 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs377619656 863 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs377619656 863 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2127847180 863 A>V No Ensembl
rs2127847171 864 G>A No Ensembl
rs2127847171 864 G>D No Ensembl
rs2127847171 864 G>V No Ensembl
rs2127847163 865 L>H No Ensembl
rs2127847167 865 L>I No Ensembl
rs2127847163 865 L>P No Ensembl
rs2127847167 865 L>V No Ensembl
rs2127847155 866 H>L No Ensembl
rs2127847155 866 H>P No Ensembl
rs2127847150 866 H>Q No Ensembl
COSM3630594
COSM4897173
 866 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2127847148 867 Q>* No Ensembl
rs2127847148 867 Q>E No Ensembl
rs1254132234 867 Q>H No gnomAD
rs2127847138 868 L>Q No Ensembl
rs2127847142 868 L>V No Ensembl
rs1769979835 869 M>I No Ensembl
TCGA novel 869 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2127847122 870 L>* No Ensembl
rs2127847116 870 L>F No Ensembl
rs2127847126 870 L>M No Ensembl
rs2127847112
COSM3411342
COSM4782122
 871 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127847112 871 D>N No Ensembl
rs2127847110 871 D>V No Ensembl
rs2127847112 871 D>Y No Ensembl
rs2127847106 872 C>* No Ensembl
rs2127847109 872 C>S No Ensembl
rs1266282599 873 W>* No TOPMed
gnomAD
rs2127847099 873 W>* No Ensembl
rs1266282599 873 W>C No TOPMed
gnomAD
rs2127847099
COSM3630593
COSM4903912
 873 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127847102 873 W>R No Ensembl
rs2127847099 873 W>S No Ensembl
rs1769979537 874 Q>* No gnomAD
rs1769979537 874 Q>E No gnomAD
rs745373107 874 Q>P No ExAC
gnomAD
rs374483308 875 K>N No ESP
ExAC
TOPMed
gnomAD
rs2127847094 875 K>R No Ensembl
rs2127847084 876 E>D No Ensembl
rs2127847085 876 E>G No Ensembl
rs748985745 876 E>K No ExAC
gnomAD
rs748985745 876 E>Q No ExAC
gnomAD
rs2127847085 876 E>V No Ensembl
rs777383467 877 R>C No ExAC
TOPMed
gnomAD
rs777383467 877 R>G No ExAC
TOPMed
gnomAD
COSM4787387
COSM3765301
rs755970343
 877 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755970343
COSM6107514
COSM6107515
 877 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs755970343 877 R>P No ExAC
TOPMed
gnomAD
rs777383467 877 R>S No ExAC
TOPMed
gnomAD
rs923098531 878 A>G No TOPMed
gnomAD
rs1769978146 878 A>P No gnomAD
rs1769978146 878 A>S No gnomAD
rs1769978146 878 A>T No gnomAD
rs923098531 878 A>V No TOPMed
gnomAD
rs2127847062 879 E>* No Ensembl
rs1309944126 879 E>A No gnomAD
rs2127847062
COSM6107516
COSM6107517
 879 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127847062 879 E>Q No Ensembl
rs2127847056 880 R>G No Ensembl
rs1769977744 880 R>K No Ensembl
rs2127847048 880 R>S No Ensembl
rs2127847043 881 P>A No Ensembl
rs2127847043 881 P>S No Ensembl
rs2127847043 881 P>T No Ensembl
rs2127847039 882 K>* No Ensembl
rs1769977601 882 K>I No TOPMed
rs747995954 882 K>N No ExAC
gnomAD
rs1769977601 882 K>T No TOPMed
rs2127847030 883 F>Y No Ensembl
rs781260960 884 E>D No ExAC
TOPMed
gnomAD
rs2127847028 884 E>K No Ensembl
rs2127847028 884 E>Q No Ensembl
rs2127847025 884 E>V No Ensembl
rs2127847014 885 Q>H No Ensembl
rs2127847022 885 Q>K No Ensembl
rs1769977138 885 Q>R No TOPMed
rs2127847010 886 I>K No Ensembl
rs755032746 886 I>L No ExAC
gnomAD
rs2127847008 886 I>M No Ensembl
rs2127847010 886 I>T No Ensembl
rs2127847002 887 V>D No Ensembl
rs2127847006 887 V>F No Ensembl
rs2127847006 887 V>L No Ensembl
rs2127846993 888 G>* No Ensembl
rs750460575 888 G>E No ExAC
TOPMed
gnomAD
rs2127846993 888 G>R No Ensembl
rs750460575 888 G>V No ExAC
TOPMed
gnomAD
TCGA novel 888 G>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2127846983 889 I>L No Ensembl
rs1769976745 889 I>S No gnomAD
rs1769976745 889 I>T No gnomAD
rs2127846983 889 I>V No Ensembl
rs1769976642 890 L>I No TOPMed
rs2127846970 890 L>Q No Ensembl
COSM6107518
COSM6107519
rs1769976642
 890 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2127846959 891 D>E No Ensembl
rs765371643 891 D>G No ExAC
gnomAD
rs2127846963 891 D>H No Ensembl
rs2127846963 891 D>N No Ensembl
rs765371643 891 D>V No ExAC
gnomAD
COSM6107520
rs2127846963
COSM6107521
 891 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1769976405 892 K>Q No TOPMed
rs2127846956 892 K>R No Ensembl
COSM4905810
rs2127846947
COSM3630591
 893 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
rs757369957 893 M>K No ExAC
TOPMed
gnomAD
rs2127846951 893 M>L No Ensembl
rs757369957 893 M>R No ExAC
TOPMed
gnomAD
COSM6175043
COSM6175044
rs757369957
 893 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs2127846945 894 I>F No Ensembl
rs2127846945 894 I>L No Ensembl
COSM167563
rs1035177735
COSM4868727
 895 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM4814395
COSM451943
rs1035177735
 895 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs754119070 895 R>L No ExAC
TOPMed
gnomAD
rs754119070 895 R>P No ExAC
TOPMed
gnomAD
COSM1446484
COSM4948483
rs754119070
 895 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2127846932 896 N>I No Ensembl
rs764259302 896 N>K No ExAC
TOPMed
gnomAD
rs2127846935 896 N>Y No Ensembl
rs2127846924 897 P>A No Ensembl
rs2127846919 897 P>L No Ensembl
rs2127846919 897 P>Q No Ensembl
rs2127846919 897 P>R No Ensembl
rs2127846924 897 P>S No Ensembl
rs2127846924 897 P>T No Ensembl
rs1769975532 898 N>D No Ensembl
rs2127846914 898 N>I No Ensembl
rs2127846913 898 N>K No Ensembl
rs1445240842 899 S>C No gnomAD
rs1445240842 899 S>G No gnomAD
TCGA novel
rs2127846905
 899 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2127846904 899 S>R No Ensembl
rs2127846905 899 S>T No Ensembl
rs2127846896 900 L>P No Ensembl
rs2127846896 900 L>Q No Ensembl
rs2127846900 900 L>V No Ensembl
rs2127846890 901 K>N No Ensembl
rs775894675
COSM3928015
 902 T>I haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2127846887 902 T>P No Ensembl
rs775894675 902 T>S No ExAC
TOPMed
gnomAD
rs2127846887 902 T>S No Ensembl
rs2127846874 903 P>A No Ensembl
rs768012065 903 P>H No ExAC
gnomAD
COSM3630590
COSM4897498
rs768012065
 903 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
gnomAD
rs768012065 903 P>R No ExAC
gnomAD
VAR_042152
COSM21146
rs2127846874
COSM4357441
 903 P>S Variant assessed as Somatic; MODERATE impact. a metastatic melanoma sample; somatic mutation [NCI-TCGA, UniProt] No NCI-TCGA Cosmic
Ensembl
UniProt
rs2127846874 903 P>T No Ensembl
rs770497783 904 L>P No ExAC
gnomAD
rs770497783 904 L>Q No ExAC
gnomAD
rs773680518 904 L>V No ExAC
TOPMed
gnomAD
rs2127846854 905 G>A No Ensembl
COSM3178819
rs2127846854
COSM4357440
 905 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2127846854 905 G>V No Ensembl
rs762475797 906 T>A No ExAC
gnomAD
rs772890525 906 T>I No ExAC
gnomAD
rs772890525 906 T>N No ExAC
gnomAD
rs762475797 906 T>P No ExAC
gnomAD
rs762475797 906 T>S No ExAC
gnomAD
rs772890525 906 T>S No ExAC
gnomAD
rs1562040318 907 C>* No TOPMed
gnomAD
rs2127846837 907 C>F No Ensembl
rs2127846837 907 C>S No Ensembl
rs2127846839 907 C>S No Ensembl
rs2127846837 907 C>Y No Ensembl
rs1299934025 908 S>C No TOPMed
gnomAD
rs1299934025 908 S>G No TOPMed
gnomAD
rs1244617177 908 S>N No TOPMed
gnomAD
rs769382910 908 S>R No ExAC
gnomAD
rs1244617177 908 S>T No TOPMed
gnomAD
rs1017335866 909 R>G No Ensembl
rs2127846815 909 R>K No Ensembl
rs2127846815 909 R>T No Ensembl
rs756054614 910 P>L No ExAC
TOPMed
gnomAD
rs947671764 910 P>S No TOPMed
gnomAD
rs947671764 910 P>T No TOPMed
gnomAD
rs2127845640 911 I>M No Ensembl
rs1769902447 912 S>G No Ensembl
rs1198293940 915 L>P No gnomAD
rs1769902179 916 D>G No TOPMed
TCGA novel 916 D>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs149864613 917 Q>P No ESP
ExAC
TOPMed
gnomAD
rs1270494312 919 T>S No gnomAD
rs1769901642 920 P>S No TOPMed
COSM3630589
COSM4895004
 921 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749385662 922 F>C No ExAC
gnomAD
COSM3430959
COSM4946279
 922 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 922 F>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs139990635 923 T>S No ESP
ExAC
TOPMed
gnomAD
rs752942156 924 T>I No ExAC
TOPMed
gnomAD
TCGA novel 924 T>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs752942156 924 T>N No ExAC
TOPMed
gnomAD
rs752942156 924 T>S No ExAC
TOPMed
gnomAD
rs368531054 925 F>L No ESP
ExAC
TOPMed
gnomAD
rs751918950 926 C>F No ExAC
TOPMed
gnomAD
rs751918950 926 C>S No ExAC
TOPMed
gnomAD
rs1214794029 928 V>A No TOPMed
gnomAD
COSM4897253
COSM3630587
 929 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4786995
COSM1446482
 930 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3876198
COSM3876197
 930 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766896709 933 Q>R No ExAC
gnomAD
rs763374008 934 A>T No ExAC
TOPMed
gnomAD
rs890770968 935 I>F No TOPMed
gnomAD
rs749890930 935 I>N No ExAC
gnomAD
rs890770968 935 I>V No TOPMed
gnomAD
rs1329501169 938 E>Q No gnomAD
rs764861058 939 R>T No ExAC
gnomAD
rs2127845594 940 Y>C No Ensembl
rs1769899287 940 Y>H No gnomAD
rs1399866665 943 N>S No gnomAD
rs1216746396 944 F>Y No TOPMed
gnomAD
rs151105732 945 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1769898589 946 A>T No TOPMed
rs1279528179 947 A>G No gnomAD
rs776388575 948 G>D No ExAC
TOPMed
gnomAD
rs374288532 950 N>S No ESP
TOPMed
gnomAD
rs141581954 951 S>C No TOPMed
gnomAD
COSM109723
COSM4484791
rs141581954
 951 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1243004793
COSM141172
 952 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs745810696 952 L>P No ExAC
gnomAD
rs1266503068 956 A>V No TOPMed
gnomAD
rs1476264499 957 R>K No TOPMed
rs542454175 957 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2127845553 958 M>I No Ensembl
rs1351552549 959 T>I No TOPMed
gnomAD
rs1351552549 959 T>N No TOPMed
gnomAD
rs781371840 960 I>T No ExAC
gnomAD
rs765208949 961 E>D No ExAC
TOPMed
gnomAD
rs760252640 962 D>V No ExAC
gnomAD
TCGA novel 963 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1487534212 963 V>M No Ensembl
rs1769773936 964 M>I No Ensembl
rs1769774086 964 M>K No Ensembl
rs1286895663 964 M>L No gnomAD
rs1286895663 964 M>V No gnomAD
rs2127844081 966 L>V No Ensembl
rs267601169 967 G>E No Ensembl
COSM4876784
COSM4876785
rs560174275
 967 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1397819533 968 I>M No gnomAD
TCGA novel 969 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1422250111 972 G>D No TOPMed
gnomAD
rs776759004 977 I>M No ExAC
gnomAD
rs748213409 977 I>T No ExAC
gnomAD
COSM4786429
COSM1446480
 978 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs374361032 978 M>T No ESP
ExAC
TOPMed
gnomAD
rs1186298360 978 M>V No TOPMed
gnomAD
rs1244079200 981 I>V No gnomAD
rs1769771684 982 Q>H No Ensembl
rs1418929572 984 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs747218317 984 M>T No ExAC
TOPMed
gnomAD
rs1219596340 984 M>V No gnomAD
rs1769770918 985 R>K No TOPMed
rs1292575307 987 Q>R No gnomAD
rs200425225 988 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs758658280 990 H>P No ExAC
TOPMed
gnomAD
rs758658280 990 H>R No ExAC
TOPMed
gnomAD
rs746280640 993 G>* No ExAC
TOPMed
gnomAD
COSM274986
rs755519422
 995 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2127844016 997 Q>* No Ensembl
rs2127844016 997 Q>E No Ensembl
rs779546139 997 Q>R No ExAC
gnomAD
TCGA novel 999 V>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q15375

14 regional properties for Q15375

Type Name Position InterPro Accession
domain Protein kinase domain 633 - 894 IPR000719
domain Ephrin receptor ligand binding domain 32 - 210 IPR001090
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 633 - 888 IPR001245
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 186 - 206 IPR001426-1
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 250 - 270 IPR001426-2
domain Sterile alpha motif domain 920 - 987 IPR001660
domain Fibronectin type III 331 - 441 IPR003961-1
domain Fibronectin type III 442 - 537 IPR003961-2
active_site Tyrosine-protein kinase, active site 754 - 766 IPR008266
domain Tyrosine-protein kinase ephrin type A/B receptor-like 271 - 308 IPR011641
binding_site Protein kinase, ATP binding site 639 - 665 IPR017441
domain Tyrosine-protein kinase, catalytic domain 633 - 890 IPR020635
domain Ephrin receptor, transmembrane domain 560 - 630 IPR027936
domain Ephrin type-A receptor 7, ligand binding domain 30 - 206 IPR034283

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
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.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 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.
chemorepellent activity Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a lower concentration of that signal.
GPI-linked ephrin receptor activity Combining with a GPI-anchored ephrin to initiate a change in cell activity.
growth factor binding Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
protein tyrosine kinase activity Catalysis of the reaction
transmembrane-ephrin receptor activity Combining with a transmembrane ephrin to initiate a change in cell activity.

20 GO annotations of biological process

Name Definition
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.
brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
branching morphogenesis of a nerve The process in which the anatomical structures of branches in a nerve are generated and organized. This term refers to an anatomical structure (nerve) not a cell (neuron).
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.
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 chemotaxis The directed movement of a motile cell or organism towards a lower concentration of a chemical.
negative regulation of collateral sprouting Any process that stops, prevents, or reduces the frequency, rate or extent of collateral sprouting.
negative regulation of synapse assembly Any process that stops, prevents, or reduces the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
nephric duct morphogenesis The process in which the anatomical structures of the nephric duct are generated and organized. A nephric duct is a tube that drains a primitive kidney.
neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of neuron apoptotic process Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell.
regulation of cysteine-type endopeptidase activity involved in apoptotic process Any process that modulates the activity of a cysteine-type endopeptidase involved in apoptosis.
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 peptidyl-tyrosine phosphorylation Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
regulation of postsynapse organization Any process that modulates the physical form of a postsynapse.
regulation of protein autophosphorylation Any process that modulates the frequency, rate or extent of addition of the phosphorylation by a protein of one or more of its own residues.
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.

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
Q07494 EPHB1 Ephrin type-B receptor 1 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
P54755 EPHA5 Ephrin type-A receptor 5 Gallus gallus (Chicken) SS
Q07498 EPHB3 Ephrin type-B receptor 3 Gallus gallus (Chicken) SS
O42422 EPHA7 Ephrin type-A receptor 7 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
P54756 EPHA5 Ephrin type-A receptor 5 Homo sapiens (Human) SS
Q9UF33 EPHA6 Ephrin type-A receptor 6 Homo sapiens (Human) SS
P54762 EPHB1 Ephrin type-B receptor 1 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
O09127 Epha8 Ephrin type-A receptor 8 Mus musculus (Mouse) SS
Q8CBF3 Ephb1 Ephrin type-B receptor 1 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
Q61772 Epha7 Ephrin type-A receptor 7 Mus musculus (Mouse) SS
P54757 Epha5 Ephrin type-A receptor 5 Rattus norvegicus (Rat) SS
P09759 Ephb1 Ephrin type-B receptor 1 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
P54759 Epha7 Ephrin type-A receptor 7 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
MVFQTRYPSW IILCYIWLLR FAHTGEAQAA KEVLLLDSKA QQTELEWISS PPNGWEEISG
70 80 90 100 110 120
LDENYTPIRT YQVCQVMEPN QNNWLRTNWI SKGNAQRIFV ELKFTLRDCN SLPGVLGTCK
130 140 150 160 170 180
ETFNLYYYET DYDTGRNIRE NLYVKIDTIA ADESFTQGDL GERKMKLNTE VREIGPLSKK
190 200 210 220 230 240
GFYLAFQDVG ACIALVSVKV YYKKCWSIIE NLAIFPDTVT GSEFSSLVEV RGTCVSSAEE
250 260 270 280 290 300
EAENAPRMHC SAEGEWLVPI GKCICKAGYQ QKGDTCEPCG RGFYKSSSQD LQCSRCPTHS
310 320 330 340 350 360
FSDKEGSSRC ECEDGYYRAP SDPPYVACTR PPSAPQNLIF NINQTTVSLE WSPPADNGGR
370 380 390 400 410 420
NDVTYRILCK RCSWEQGECV PCGSNIGYMP QQTGLEDNYV TVMDLLAHAN YTFEVEAVNG
430 440 450 460 470 480
VSDLSRSQRL FAAVSITTGQ AAPSQVSGVM KERVLQRSVE LSWQEPEHPN GVITEYEIKY
490 500 510 520 530 540
YEKDQRERTY STVKTKSTSA SINNLKPGTV YVFQIRAFTA AGYGNYSPRL DVATLEEATG
550 560 570 580 590 600
KMFEATAVSS EQNPVIIIAV VAVAGTIILV FMVFGFIIGR RHCGYSKADQ EGDEELYFHF
610 620 630 640 650 660
KFPGTKTYID PETYEDPNRA VHQFAKELDA SCIKIERVIG AGEFGEVCSG RLKLPGKRDV
670 680 690 700 710 720
AVAIKTLKVG YTEKQRRDFL CEASIMGQFD HPNVVHLEGV VTRGKPVMIV IEFMENGALD
730 740 750 760 770 780
AFLRKHDGQF TVIQLVGMLR GIAAGMRYLA DMGYVHRDLA ARNILVNSNL VCKVSDFGLS
790 800 810 820 830 840
RVIEDDPEAV YTTTGGKIPV RWTAPEAIQY RKFTSASDVW SYGIVMWEVM SYGERPYWDM
850 860 870 880 890 900
SNQDVIKAIE EGYRLPAPMD CPAGLHQLML DCWQKERAER PKFEQIVGIL DKMIRNPNSL
910 920 930 940 950 960
KTPLGTCSRP ISPLLDQNTP DFTTFCSVGE WLQAIKMERY KDNFTAAGYN SLESVARMTI
970 980 990
EDVMSLGITL VGHQKKIMSS IQTMRAQMLH LHGTGIQV