P54764
Gene name |
EPHA4 (HEK8, SEK, TYRO1) |
Protein name |
Ephrin type-A receptor 4 |
Names |
EC 2.7.10.1 , EPH-like kinase 8 , EK8 , hEK8 , Tyrosine-protein kinase TYRO1 , Tyrosine-protein kinase receptor SEK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2043 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
621-882 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
763-789 (Activation loop from InterPro)
Target domain |
621-882 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure

Activated structure

17 structures for P54764
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2LW8 | NMR | - | A | 29-209 | PDB |
2WO1 | X-ray | 185 A | A/B | 30-202 | PDB |
2WO2 | X-ray | 245 A | A | 30-202 | PDB |
2WO3 | X-ray | 235 A | A | 30-202 | PDB |
3CKH | X-ray | 280 A | A/B | 29-209 | PDB |
3GXU | X-ray | 250 A | A | 29-203 | PDB |
4BK4 | X-ray | 365 A | A/B | 20-547 | PDB |
4BK5 | X-ray | 400 A | A | 20-547 | PDB |
4BKA | X-ray | 530 A | A | 20-547 | PDB |
4BKF | X-ray | 465 A | A/B | 20-547 | PDB |
4M4P | X-ray | 208 A | A | 27-543 | PDB |
4M4R | X-ray | 313 A | A/C/E/G | 27-543 | PDB |
4W4Z | X-ray | 241 A | A/B/C/D | 29-204 | PDB |
4W50 | X-ray | 242 A | A/B/C/D | 29-204 | PDB |
5JR2 | X-ray | 175 A | A/B/C/D | 29-204 | PDB |
7OFV | X-ray | 143 A | A | 29-209 | PDB |
AF-P54764-F1 | Predicted | AlphaFoldDB |
923 variants for P54764
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV002545874 RCV001878591 rs144149406 |
97 | V>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs375452175 RCV002005887 RCV002579626 |
466 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs774855923 RCV003167301 RCV001933892 COSM3391507 COSM3391508 |
573 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV002547965 RCV001894356 rs761654406 |
734 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
CA350407591 rs1553568456 RCV000655960 |
748 | A>T | atypical cerebral palsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001992714 rs199889377 RCV002562935 |
852 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
COSM1016958 rs201040727 RCV002552109 RCV001880728 COSM1016957 |
946 | V>M | endometrium Inborn genetic diseases [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs939371167 | 3 | G>E | No | gnomAD | |
rs746371733 | 4 | I>V | No |
ExAC gnomAD |
|
rs781578118 | 6 | Y>C | No |
ExAC gnomAD |
|
TCGA novel | 6 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 7 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1248253403 | 8 | A>S | No | gnomAD | |
rs757596494 | 8 | A>V | No |
ExAC gnomAD |
|
COSM1405769 COSM1405770 |
9 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1264445058 | 9 | L>V | No |
TOPMed gnomAD |
|
rs1162358008 | 12 | C>S | No | TOPMed | |
rs1008387910 | 13 | L>F | No | TOPMed | |
rs1559300040 | 15 | G>W | No | Ensembl | |
rs1694863385 | 17 | C>* | No | Ensembl | |
rs1397108495 RCV001920140 |
17 | C>S | No |
ClinVar dbSNP gnomAD |
|
rs1408458706 | 18 | D>N | No |
TOPMed gnomAD |
|
rs1408458706 | 18 | D>Y | No |
TOPMed gnomAD |
|
rs1041387439 | 20 | V>A | No |
TOPMed gnomAD |
|
rs765396923 | 21 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1307731541 | 22 | G>C | No |
TOPMed gnomAD |
|
rs756185018 | 22 | G>D | No |
ExAC TOPMed gnomAD |
|
rs756185018 | 22 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1181064271 | 23 | S>A | No |
TOPMed gnomAD |
|
rs1694861916 | 24 | R>K | No | gnomAD | |
rs767466254 | 24 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1201186843 | 25 | V>I | No |
TOPMed gnomAD |
|
rs773907283 | 26 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1284439815 | 27 | P>S | No |
TOPMed gnomAD |
|
rs762381958 | 28 | A>G | No |
ExAC gnomAD |
|
rs763735444 | 28 | A>P | No |
ExAC TOPMed gnomAD |
|
rs763735444 | 28 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1279318910 | 29 | N>S | No | gnomAD | |
COSM1016998 COSM1016997 |
30 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 31 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1574668112 | 31 | V>A | No | Ensembl | |
rs1009852736 | 31 | V>L | No | TOPMed | |
rs759008116 | 37 | R>T | No |
ExAC gnomAD |
|
rs777131300 | 38 | S>C | No |
ExAC TOPMed gnomAD |
|
rs777131300 | 38 | S>F | No |
ExAC TOPMed gnomAD |
|
rs1694743944 | 39 | V>A | No | Ensembl | |
COSM4091865 COSM4091866 rs771415392 |
40 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs201423814 | 41 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
COSM122868 rs201423814 COSM122867 |
41 | G>E | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
COSM4091864 COSM4091863 |
42 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1290023348 | 43 | L>F | No | gnomAD | |
TCGA novel | 43 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1531159 COSM1531160 COSM6157334 rs1308566551 COSM6157335 |
46 | I>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1694743281 | 46 | I>V | No | TOPMed | |
rs773695596 | 47 | A>T | No |
ExAC TOPMed gnomAD |
|
rs772289765 RCV001899618 |
48 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748448148 | 48 | S>R | No |
ExAC TOPMed gnomAD |
|
rs779224324 | 49 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1347222781 | 51 | E>* | No | gnomAD | |
TCGA novel | 52 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1574668029 | 53 | G>R | No | Ensembl | |
rs762225060 | 58 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1694562555 | 59 | I>T | No | TOPMed | |
TCGA novel | 59 | I>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs774718510 | 60 | M>I | No |
ExAC gnomAD |
|
COSM3578194 COSM3578195 |
61 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5861876 COSM5861875 |
62 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1253658594 | 64 | N>H | No | gnomAD | |
COSM391256 COSM391257 |
64 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5188853 | 64 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs965238814 | 65 | T>I | No |
TOPMed gnomAD |
|
rs965238814 | 65 | T>K | No |
TOPMed gnomAD |
|
rs1694562042 | 67 | I>T | No | TOPMed | |
rs866953044 | 68 | R>* | No | Ensembl | |
rs1419977273 | 68 | R>Q | No | gnomAD | |
rs1429334984 | 69 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM1016995 COSM1016996 |
70 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs369440148 | 72 | V>L | No |
ESP ExAC gnomAD |
|
rs139915472 | 74 | N>H | No |
ESP ExAC TOPMed gnomAD |
|
rs746991074 | 74 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1020746258 | 76 | M>I | No | Ensembl | |
rs777531997 | 77 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1574663492 | 81 | N>S | No | Ensembl | |
COSM4091861 COSM4091862 |
85 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs374795790 | 85 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs957961356 | 85 | R>Q | No |
TOPMed gnomAD |
|
rs1436338802 | 86 | T>S | No | TOPMed | |
rs754695380 | 87 | D>Y | No |
ExAC gnomAD |
|
rs1222041854 | 88 | W>C | No | gnomAD | |
rs755527453 | 91 | R>G | No |
ExAC gnomAD |
|
rs750966838 | 91 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs199555949 | 93 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199555949 | 93 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1453977925 | 94 | A>S | No | gnomAD | |
rs1347356714 | 94 | A>V | No | gnomAD | |
rs764546684 | 96 | R>K | No |
ExAC TOPMed gnomAD |
|
rs775527820 | 97 | V>A | No |
ExAC TOPMed gnomAD |
|
rs775527820 | 97 | V>G | No |
ExAC TOPMed gnomAD |
|
rs1185509846 | 99 | I>M | No | gnomAD | |
rs1307751766 | 99 | I>T | No | gnomAD | |
rs1694557571 | 100 | E>D | No | Ensembl | |
rs1694557642 | 100 | E>Q | No | Ensembl | |
rs1694557486 | 102 | K>N | No | TOPMed | |
TCGA novel | 102 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 105 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1694557283 | 105 | L>S | No | gnomAD | |
COSM4799033 COSM4799032 |
106 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4799085 COSM4799084 |
106 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4091857 COSM4091858 |
106 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1694557193 | 107 | D>N | No | Ensembl | |
rs769949889 | 109 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2106209340 | 110 | S>I | No | Ensembl | |
rs1255538022 COSM1205455 COSM1205454 |
112 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs745869814 | 113 | G>S | No |
ExAC TOPMed gnomAD |
|
rs748076314 | 114 | V>F | No |
ExAC TOPMed gnomAD |
|
rs748076314 COSM3407602 COSM3407601 |
114 | V>I | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs200482476 | 115 | M>T | No |
1000Genomes ExAC TOPMed |
|
TCGA novel | 116 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs113596369 | 118 | C>R | No | Ensembl | |
rs1694556067 COSM3045986 COSM3045987 |
121 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1380003574 | 125 | Y>C | No | gnomAD | |
rs1382467778 | 126 | Y>C | No | gnomAD | |
rs1311349395 COSM4091856 COSM4091855 |
126 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs371268826 | 127 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
rs371268826 | 127 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
COSM3838708 COSM3838709 rs2106209275 |
129 | S>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
TCGA novel | 129 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs369898036 | 131 | N>D | No |
ESP TOPMed gnomAD |
|
rs2106209268 | 132 | D>E | No | Ensembl | |
TCGA novel | 132 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1366582871 | 132 | D>N | No |
TOPMed gnomAD |
|
TCGA novel | 133 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs749843233 COSM1405768 COSM1405767 |
135 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
rs749843233 | 135 | R>G | No |
ExAC gnomAD |
|
rs1013909979 | 135 | R>H | No |
TOPMed gnomAD |
|
rs924587124 | 137 | I>T | No |
TOPMed gnomAD |
|
TCGA novel | 139 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
RCV002000319 rs2106209238 |
140 | N>K | No |
ClinVar Ensembl dbSNP |
|
rs550952508 | 141 | Q>* | No | 1000Genomes | |
rs550952508 | 141 | Q>E | No | 1000Genomes | |
rs2106209230 | 142 | F>I | No | Ensembl | |
rs767039863 | 143 | V>F | No |
ExAC TOPMed |
|
rs757903625 | 144 | K>R | No |
ExAC gnomAD |
|
COSM3391514 rs752080176 COSM3391513 |
145 | I>T | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs764577079 | 146 | D>E | No |
ExAC gnomAD |
|
rs2106209212 | 147 | T>S | No | Ensembl | |
rs1221547125 | 148 | I>V | No |
TOPMed gnomAD |
|
rs2106209207 | 149 | A>V | No | Ensembl | |
rs2106209200 | 150 | A>V | No | Ensembl | |
rs1224682977 | 151 | D>Y | No | gnomAD | |
rs2106209198 | 152 | E>* | No | Ensembl | |
TCGA novel | 152 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1694553037 | 159 | I>M | No | Ensembl | |
rs1559295681 | 159 | I>T | No | Ensembl | |
rs1694553217 | 159 | I>V | No |
TOPMed gnomAD |
|
rs1036542307 | 162 | R>K | No | Ensembl | |
rs1442624725 | 164 | M>L | No | gnomAD | |
rs113138543 | 169 | E>G | No | Ensembl | |
rs1250363178 | 169 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs2106209146 | 170 | I>M | No | Ensembl | |
rs1398999744 | 171 | R>Q | No | gnomAD | |
rs942232541 | 171 | R>W | No |
TOPMed gnomAD |
|
rs2106209131 | 172 | D>N | No | Ensembl | |
rs1356547451 | 173 | V>A | No |
TOPMed gnomAD |
|
rs2106209123 | 173 | V>I | No | Ensembl | |
COSM250924 COSM250925 rs1694551025 |
174 | G>E | liver [Cosmic] | No |
cosmic curated gnomAD |
rs2106209119 | 174 | G>R | No | Ensembl | |
rs1694550894 | 175 | P>A | No | TOPMed | |
rs776646746 | 177 | S>G | No |
ExAC TOPMed gnomAD |
|
rs770968962 | 178 | K>Q | No |
ExAC gnomAD |
|
rs761790381 | 178 | K>T | No |
ExAC gnomAD |
|
rs1472671633 | 179 | K>R | No | TOPMed | |
rs1168581485 | 180 | G>V | No | gnomAD | |
rs1168636665 | 180 | G>W | No | gnomAD | |
TCGA novel | 181 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 181 | F>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs774222133 | 182 | Y>H | No |
ExAC gnomAD |
|
rs2106209089 | 184 | A>S | No | Ensembl | |
TCGA novel | 184 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 186 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1170306799 | 187 | D>E | No | gnomAD | |
rs768468113 | 187 | D>G | No |
ExAC gnomAD |
|
rs748965921 | 189 | G>R | No |
ExAC gnomAD |
|
rs1694549055 | 192 | I>S | No | Ensembl | |
rs1051141160 | 193 | A>P | No | Ensembl | |
COSM1205452 COSM1205453 |
193 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1449807402 | 195 | V>I | No | gnomAD | |
rs112444976 | 196 | S>P | No | Ensembl | |
rs756804453 | 198 | R>C | No |
ExAC TOPMed gnomAD |
|
rs756804453 | 198 | R>G | No |
ExAC TOPMed gnomAD |
|
rs184759178 COSM1016991 COSM1016992 |
198 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
rs756804453 | 198 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1694547489 | 199 | V>M | No | gnomAD | |
COSM3426128 rs1255584338 COSM3426129 |
200 | F>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1694547211 | 201 | Y>H | No | gnomAD | |
TCGA novel | 203 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs752143625 | 205 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1323748874 | 206 | L>F | No |
TOPMed gnomAD |
|
rs778357844 | 206 | L>P | No |
ExAC gnomAD |
|
rs753061954 | 208 | V>F | No |
ExAC gnomAD |
|
rs753061954 | 208 | V>L | No |
ExAC gnomAD |
|
RCV002009148 rs765633667 |
209 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
COSM1725999 COSM1726000 rs759721341 |
209 | R>H | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs759721341 | 209 | R>L | No |
ExAC TOPMed gnomAD |
|
rs2106209015 | 210 | N>S | No | Ensembl | |
rs1394481740 | 213 | Q>E | No |
TOPMed gnomAD |
|
TCGA novel | 213 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1694545401 | 213 | Q>R | No | gnomAD | |
COSM4892796 COSM4892797 |
215 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754072204 | 218 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1694544950 | 219 | T>A | No | TOPMed | |
rs1431649558 | 221 | A>P | No |
TOPMed gnomAD |
|
rs1431649558 RCV002018640 |
221 | A>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs766465905 COSM4681292 COSM4681291 |
223 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs766465905 | 223 | T>R | No |
ExAC TOPMed gnomAD |
|
rs774273988 | 225 | S>F | No |
ExAC gnomAD |
|
COSM1718745 rs768519615 COSM1718746 |
228 | E>K | NS [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs2106208991 | 229 | V>I | No | Ensembl | |
COSM1177209 rs867613646 COSM1177210 |
230 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1420768724 | 230 | R>Q | No |
TOPMed gnomAD |
|
COSM6090784 COSM6090785 |
231 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762933332 | 231 | G>V | No |
ExAC gnomAD |
|
rs1264539873 | 233 | C>F | No | gnomAD | |
COSM3838706 COSM3838707 |
234 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 234 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs769599505 | 235 | N>H | No |
ExAC gnomAD |
|
RCV001968884 rs745555273 |
235 | N>S | No |
ClinVar ExAC dbSNP gnomAD |
|
rs770569782 | 236 | N>K | No |
ExAC TOPMed gnomAD |
|
rs780953547 | 236 | N>S | No |
ExAC gnomAD |
|
rs746462605 | 238 | E>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs1245308570 |
239 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA |
rs1694541955 | 239 | E>K | No | Ensembl | |
rs1694541414 | 241 | D>H | No | Ensembl | |
rs978524820 | 241 | D>V | No | TOPMed | |
rs1453383325 | 243 | P>A | No | gnomAD | |
rs1453383325 | 243 | P>S | No | gnomAD | |
rs1694541046 | 244 | K>T | No | gnomAD | |
COSM1405766 COSM1405765 |
245 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2106208933 | 246 | Y>C | No | Ensembl | |
COSM4091854 COSM4091853 |
249 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4091851 COSM4091852 |
255 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1574662874 | 255 | V>G | No | Ensembl | |
rs1694540524 | 256 | P>R | No | Ensembl | |
rs758898289 | 257 | I>T | No |
ExAC gnomAD |
|
rs1022709550 | 259 | N>S | No | TOPMed | |
rs779199200 | 263 | N>K | No |
ExAC TOPMed gnomAD |
|
rs766517365 | 264 | A>G | No |
ExAC TOPMed gnomAD |
|
rs368252272 | 264 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs368252272 | 264 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs368252272 | 264 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 265 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1694539033 | 268 | E>D | No | Ensembl | |
rs1694539154 | 268 | E>K | No | Ensembl | |
rs762835852 | 269 | R>G | No |
ExAC TOPMed gnomAD |
|
rs35084379 VAR_042135 |
269 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
COSM1016989 rs762835852 COSM1016990 RCV001913924 |
269 | R>W | endometrium [Cosmic] | No |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
rs1694538560 | 270 | S>G | No | gnomAD | |
rs1694538424 | 270 | S>N | No |
TOPMed gnomAD |
|
rs941541780 | 271 | G>E | No | TOPMed | |
COSM4583242 COSM4583243 rs981128868 |
271 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1207205117 | 274 | Q>K | No |
TOPMed gnomAD |
|
rs1694537539 | 275 | A>T | No | TOPMed | |
rs1234704615 | 276 | C>Y | No | gnomAD | |
RCV001994453 rs1196771519 |
277 | K>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1016987 COSM1016988 |
279 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3578184 rs1457488118 COSM3578185 |
279 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs200631562 | 280 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs200631562 | 280 | Y>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 281 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1205794130 | 281 | Y>F | No | gnomAD | |
rs1692478520 | 282 | K>N | No | TOPMed | |
rs781434654 | 283 | A>G | No |
ExAC gnomAD |
|
rs146488160 | 283 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757297693 | 284 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1254867384 | 284 | L>P | No | gnomAD | |
rs757297693 | 284 | L>V | No |
ExAC TOPMed gnomAD |
|
rs766030392 | 285 | S>P | No |
ExAC gnomAD |
|
rs1382673990 | 286 | T>A | No | TOPMed | |
rs200225096 | 286 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
rs200225096 RCV000899544 |
286 | T>M | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3578182 COSM3578183 |
287 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1230632265 | 287 | D>V | No |
TOPMed gnomAD |
|
TCGA novel | 288 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1324719136 | 288 | A>V | No | gnomAD | |
rs1375509458 | 289 | T>A | No |
TOPMed gnomAD |
|
rs1692476783 | 289 | T>I | No | Ensembl | |
rs973610366 | 291 | A>G | No |
TOPMed gnomAD |
|
rs973610366 | 291 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1175746778 | 292 | K>E | No |
TOPMed gnomAD |
|
rs1574615884 | 293 | C>S | No | Ensembl | |
rs2106157591 | 294 | P>L | No | Ensembl | |
rs1401818376 | 296 | H>Y | No | gnomAD | |
COSM442382 COSM442383 |
299 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1692475685 | 300 | V>A | No | TOPMed | |
rs1692475469 | 302 | E>K | No | TOPMed | |
COSM1565043 COSM1565044 |
303 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs145605677 | 303 | G>A | No | ESP | |
rs377728125 | 304 | A>V | No |
ESP TOPMed |
|
rs1692475108 | 305 | T>I | No | TOPMed | |
rs537081277 COSM5123795 COSM210124 |
306 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1574615849 | 306 | S>T | No | Ensembl | |
rs768017972 | 308 | T>A | No |
ExAC gnomAD |
|
rs1254055622 | 308 | T>N | No | gnomAD | |
rs768017972 | 308 | T>P | No |
ExAC gnomAD |
|
rs768017972 | 308 | T>S | No |
ExAC gnomAD |
|
rs763497552 | 310 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1317445871 | 311 | R>* | No |
TOPMed gnomAD |
|
rs1317445871 | 311 | R>G | No |
TOPMed gnomAD |
|
rs375924623 | 311 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM1205457 rs375924623 COSM1205456 |
311 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs59845374 | 312 | G>S | No | Ensembl | |
rs1574615791 | 314 | F>L | No | Ensembl | |
rs200748922 | 314 | F>L | No |
1000Genomes ExAC gnomAD |
|
rs1692472982 | 314 | F>S | No | TOPMed | |
rs1692472692 | 315 | R>G | No | TOPMed | |
rs1692472409 | 316 | A>D | No | TOPMed | |
rs1480675044 | 316 | A>T | No | TOPMed | |
rs1692472335 | 317 | D>G | No | Ensembl | |
rs1692472259 | 318 | N>D | No | gnomAD | |
rs185878065 | 318 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs139457656 | 318 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747169432 | 319 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1374932930 | 320 | A>S | No | gnomAD | |
rs1302650060 | 321 | A>V | No | gnomAD | |
rs977254277 | 322 | S>C | No |
TOPMed gnomAD |
|
rs977254277 | 322 | S>F | No |
TOPMed gnomAD |
|
rs1157433191 | 323 | M>I | No | gnomAD | |
rs1419592564 | 324 | P>L | No | gnomAD | |
rs1692471013 | 324 | P>T | No | TOPMed | |
rs758506758 | 326 | T>A | No |
ExAC gnomAD |
|
rs1166938504 | 327 | R>C | No |
TOPMed gnomAD |
|
rs1420416308 | 328 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1420416308 | 328 | P>T | No |
TOPMed gnomAD |
|
rs1164929779 | 329 | P>L | No | TOPMed | |
rs1367956019 | 330 | S>F | No |
TOPMed gnomAD |
|
TCGA novel | 331 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1691860174 | 331 | A>T | No | TOPMed | |
rs555974208 | 333 | L>P | No | Ensembl | |
rs777095910 | 334 | N>I | No |
ExAC gnomAD |
|
TCGA novel | 336 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1425549452 | 338 | N>D | No | gnomAD | |
rs747279418 | 338 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1691859063 | 339 | V>I | No | gnomAD | |
rs1355448455 | 340 | N>S | No |
TOPMed gnomAD |
|
rs1267892853 | 341 | E>K | No | gnomAD | |
rs1691856529 | 344 | V>L | No | Ensembl | |
rs1301593446 | 349 | S>N | No |
TOPMed gnomAD |
|
rs1218892372 | 350 | S>I | No | gnomAD | |
rs1691855972 | 351 | P>S | No | Ensembl | |
COSM4933116 COSM4933115 |
351 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1276709569 | 353 | N>Y | No | gnomAD | |
rs1559260345 | 356 | G>D | No | Ensembl | |
COSM6026518 rs1011192300 COSM6026517 |
357 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
rs756184907 COSM269111 RCV002031471 COSM269110 |
357 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
rs756184907 COSM3782128 COSM3782129 |
357 | R>L | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1011192300 | 357 | R>S | No | gnomAD | |
rs1559260327 | 360 | I>T | No | Ensembl | |
rs2106141535 | 360 | I>V | No | Ensembl | |
COSM230957 COSM230958 |
361 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1390161740 | 361 | S>K | No | gnomAD | |
COSM1016983 COSM1016984 |
363 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1316327295 | 363 | N>Y | No | TOPMed | |
COSM1565048 | 364 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781087709 | 367 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1168279571 RCV001904783 |
369 | C>R | No |
ClinVar dbSNP gnomAD |
|
rs895132449 | 369 | C>S | No |
TOPMed gnomAD |
|
rs895132449 | 369 | C>Y | No |
TOPMed gnomAD |
|
rs756952113 VAR_042136 COSM21131 |
370 | G>E | urinary_tract a bladder carcinoma NOS sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt ExAC dbSNP gnomAD |
COSM1405758 rs1307844419 COSM1405757 |
370 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
TCGA novel | 371 | A>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs201391619 | 371 | A>D | No | gnomAD | |
rs1206616391 | 371 | A>S | No |
TOPMed gnomAD |
|
rs1206616391 | 371 | A>T | No |
TOPMed gnomAD |
|
rs1431328286 | 372 | G>D | No |
TOPMed gnomAD |
|
rs939425780 | 372 | G>S | No | Ensembl | |
rs1431328286 | 372 | G>V | No |
TOPMed gnomAD |
|
rs1278101088 | 373 | D>N | No | TOPMed | |
rs763670422 | 374 | P>A | No |
ExAC gnomAD |
|
rs867434076 | 374 | P>L | No | gnomAD | |
rs758033751 | 375 | S>I | No |
ExAC TOPMed gnomAD |
|
rs758033751 | 375 | S>N | No |
ExAC TOPMed gnomAD |
|
RCV001943212 rs752271799 |
378 | R>L | No |
ClinVar ExAC dbSNP gnomAD |
|
rs752271799 | 378 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs199971007 | 379 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199971007 | 379 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1346215997 | 379 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1691850395 | 381 | G>R | No |
TOPMed gnomAD |
|
rs1691850110 | 382 | S>N | No | TOPMed | |
rs978585578 | 383 | G>R | No | TOPMed | |
rs760885287 | 383 | G>V | No |
ExAC gnomAD |
|
COSM3972045 COSM3972044 |
384 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1307815156 | 384 | V>D | No | gnomAD | |
rs773586125 | 385 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1374756921 | 387 | T>N | No |
TOPMed gnomAD |
|
rs1691848737 | 390 | Q>L | No | gnomAD | |
rs1691848737 | 390 | Q>R | No | gnomAD | |
rs1330990969 | 392 | G>A | No | gnomAD | |
rs1330990969 | 392 | G>D | No | gnomAD | |
rs1330990969 | 392 | G>V | No | gnomAD | |
rs1470407288 | 393 | L>F | No | gnomAD | |
TCGA novel | 394 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1402681482 | 395 | T>I | No | gnomAD | |
rs772477067 RCV001886148 |
397 | K>E | No |
ClinVar ExAC dbSNP gnomAD |
|
COSM3045928 COSM21144 rs868224085 VAR_042137 |
399 | S>F | Variant assessed as Somatic; MODERATE impact. skin a metastatic melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
NCI-TCGA Cosmic cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
RCV002005886 rs1464493300 |
400 | I>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs768831751 | 402 | D>E | No |
ExAC gnomAD |
|
COSM1016981 rs2106141367 COSM1016982 RCV002048253 |
404 | L>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
rs745837888 | 404 | L>P | No |
ExAC gnomAD |
|
rs1177672725 | 405 | A>V | No | gnomAD | |
rs780950065 | 406 | H>P | No |
ExAC gnomAD |
|
rs780950065 | 406 | H>R | No |
ExAC gnomAD |
|
rs1691846302 | 407 | T>A | No | Ensembl | |
rs2106141337 TCGA novel RCV001983273 |
407 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
COSM3578172 COSM3578173 |
409 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 410 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1314884263 | 412 | E>Q | No |
TOPMed gnomAD |
|
rs1287445533 | 414 | W>* | No | gnomAD | |
TCGA novel | 415 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1691845909 | 418 | G>R | No | TOPMed | |
rs1691845838 | 419 | V>M | No |
TOPMed gnomAD |
|
TCGA novel | 421 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1274741785 | 423 | N>H | No | gnomAD | |
rs752325084 | 423 | N>K | No |
ExAC TOPMed gnomAD |
|
rs758087110 | 423 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1342425992 | 424 | P>S | No | gnomAD | |
rs910879210 | 426 | P>T | No | Ensembl | |
rs764751712 | 427 | D>N | No |
ExAC TOPMed gnomAD |
|
rs764751712 | 427 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs1159235217 | 428 | Q>P | No |
TOPMed gnomAD |
|
rs915257202 | 430 | V>A | No |
TOPMed gnomAD |
|
rs754376727 | 431 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs537001502 | 433 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 435 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1238780896 | 435 | T>S | No | gnomAD | |
rs1442266098 | 439 | A>V | No | gnomAD | |
rs189733468 COSM1531164 COSM6157339 COSM1531163 COSM6157338 |
441 | P>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes gnomAD |
rs189733468 | 441 | P>T | No |
1000Genomes gnomAD |
|
rs1318816546 | 443 | S>C | No | gnomAD | |
rs971898806 | 445 | A>T | No | TOPMed | |
rs1259007158 | 446 | L>S | No |
TOPMed gnomAD |
|
rs779608005 | 448 | Q>R | No |
ExAC gnomAD |
|
TCGA novel | 451 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1269584121 | 452 | V>I | No |
TOPMed gnomAD |
|
rs1351145874 | 454 | R>I | No |
TOPMed gnomAD |
|
rs768014459 | 455 | Y>C | No |
ExAC gnomAD |
|
rs1172365521 | 456 | S>R | No | gnomAD | |
rs1400486676 | 456 | S>R | No | gnomAD | |
rs1192322375 | 460 | A>V | No |
TOPMed gnomAD |
|
rs1245084455 | 461 | W>C | No | gnomAD | |
rs764163455 | 461 | W>L | No |
ExAC gnomAD |
|
rs1691013384 | 462 | L>M | No | Ensembl | |
rs75793991 | 463 | E>G | No | Ensembl | |
rs763223548 | 465 | D>H | No |
ExAC TOPMed gnomAD |
|
rs763223548 | 465 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1458390610 | 465 | D>V | No | gnomAD | |
RCV002004743 rs199981171 |
466 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 468 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2106118873 | 468 | N>S | No | Ensembl | |
rs980508885 | 470 | V>G | No | Ensembl | |
TCGA novel | 470 | V>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 476 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766357479 | 478 | Y>C | No | Ensembl | |
rs1303799779 | 483 | Q>* | No |
TOPMed gnomAD |
|
rs1303799779 | 483 | Q>E | No |
TOPMed gnomAD |
|
rs1303799779 | 483 | Q>K | No |
TOPMed gnomAD |
|
rs1167402539 | 484 | N>D | No | gnomAD | |
rs774050484 | 485 | E>D | No |
ExAC TOPMed gnomAD |
|
rs767504649 | 485 | E>K | No |
ExAC gnomAD |
|
rs368046283 | 486 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 487 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1156866186 | 488 | Y>C | No |
TOPMed gnomAD |
|
rs1443433118 | 489 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM1405752 COSM1405751 |
489 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775171156 | 490 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1191568368 | 491 | V>A | No | gnomAD | |
rs927390651 | 492 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1690966051 COSM3838705 COSM173357 |
492 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs184634347 | 494 | A>T | No |
1000Genomes ExAC gnomAD |
|
TCGA novel rs780837109 |
495 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
rs780837109 | 495 | A>T | No |
ExAC gnomAD |
|
rs757905726 | 497 | N>D | No |
ExAC gnomAD |
|
rs747496763 | 497 | N>S | No |
ExAC gnomAD |
|
rs1237246170 | 498 | T>A | No | gnomAD | |
rs758747802 | 502 | G>D | No |
ExAC gnomAD |
|
COSM1405750 | 503 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1377489193 | 504 | N>S | No | gnomAD | |
rs1312612580 | 505 | P>A | No | gnomAD | |
TCGA novel | 505 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1312612580 | 505 | P>S | No | gnomAD | |
rs552992707 | 506 | L>F | No |
1000Genomes ExAC gnomAD |
|
rs552992707 | 506 | L>V | No |
1000Genomes ExAC gnomAD |
|
RCV002040032 rs2106117855 |
509 | Y>C | No |
ClinVar Ensembl dbSNP |
|
rs1250926714 | 512 | H>R | No | gnomAD | |
rs1427659031 | 513 | V>M | No |
TOPMed gnomAD |
|
rs1553572100 | 514 | R>* | No | TOPMed | |
COSM3972043 COSM3972042 |
514 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1197783524 | 515 | A>G | No | gnomAD | |
TCGA novel | 518 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1016976 COSM1016975 |
520 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1186891230 | 521 | Y>C | No |
TOPMed gnomAD |
|
rs1690962352 | 525 | S>G | No | TOPMed | |
rs1690962224 | 526 | E>V | No | Ensembl | |
TCGA novel | 527 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1553572091 | 529 | E>D | No | Ensembl | |
rs1690961418 | 531 | T>A | No | Ensembl | |
rs775020442 | 531 | T>K | No |
ExAC gnomAD |
|
rs2106117784 | 532 | T>I | No | Ensembl | |
rs868844423 | 534 | T>A | No | gnomAD | |
rs762788015 | 535 | V>A | No |
ExAC gnomAD |
|
rs752604578 | 536 | P>L | No |
ExAC TOPMed gnomAD |
|
rs752604578 | 536 | P>R | No |
ExAC TOPMed gnomAD |
|
rs776382226 | 538 | R>P | No |
ExAC TOPMed gnomAD |
|
rs776382226 COSM122865 COSM122866 |
538 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs759284589 | 538 | R>W | No |
ExAC TOPMed gnomAD |
|
rs556830861 | 540 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770567769 | 540 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1370326372 | 541 | G>A | No | gnomAD | |
rs1690921142 | 542 | D>V | No | gnomAD | |
rs772581007 | 543 | G>A | No |
ExAC TOPMed gnomAD |
|
rs1449240150 | 544 | A>V | No | gnomAD | |
rs1690920441 | 546 | S>T | No |
TOPMed gnomAD |
|
rs1690920013 | 547 | T>I | No | gnomAD | |
rs1690920149 | 547 | T>S | No | gnomAD | |
rs779294936 | 548 | V>A | No |
ExAC TOPMed gnomAD |
|
rs779294936 | 548 | V>D | No |
ExAC TOPMed gnomAD |
|
rs2106116869 | 548 | V>I | No | Ensembl | |
COSM5134546 | 550 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs768964879 | 554 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1183713443 | 557 | V>A | No | gnomAD | |
rs1251795181 | 558 | V>M | No | gnomAD | |
rs1458779447 | 560 | V>A | No | gnomAD | |
COSM3695300 COSM3695301 |
560 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1178896117 | 560 | V>L | No | gnomAD | |
COSM4091841 COSM4091842 |
563 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1248873615 | 564 | I>V | No | gnomAD | |
TCGA novel | 566 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195527152 | 568 | V>F | No |
TOPMed gnomAD |
|
rs780185882 | 569 | I>V | No |
ExAC gnomAD |
|
rs756163696 | 570 | S>R | No |
ExAC TOPMed gnomAD |
|
COSM3709447 COSM3709448 rs781128122 |
571 | R>Q | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs371177966 | 571 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
COSM5723643 COSM5723642 rs764646085 |
573 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM4091840 COSM4091839 |
574 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 574 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs997617273 | 577 | S>T | No | gnomAD | |
COSM5109355 | 579 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1475171456 | 580 | K>N | No | gnomAD | |
rs1690587950 | 581 | Q>E | No | TOPMed | |
rs1264602413 | 581 | Q>H | No | gnomAD | |
rs1690587779 | 583 | A>T | No | gnomAD | |
rs1356824377 | 583 | A>V | No |
TOPMed gnomAD |
|
COSM476967 rs371063790 COSM476966 |
586 | E>G | kidney [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs780293673 | 588 | H>Q | No | TOPMed | |
rs770032654 | 588 | H>Y | No |
ExAC TOPMed gnomAD |
|
COSM3045912 COSM3045913 |
592 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs911843392 | 592 | G>V | No | TOPMed | |
rs1690499304 | 593 | V>A | No | Ensembl | |
rs375822609 | 593 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1690499210 | 594 | R>T | No | TOPMed | |
rs772225365 | 595 | T>I | No |
ExAC gnomAD |
|
rs1690498611 | 597 | V>A | No | TOPMed | |
rs779793006 | 598 | D>G | No |
ExAC gnomAD |
|
TCGA novel | 598 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755954200 | 599 | P>S | No |
ExAC gnomAD |
|
rs755954200 | 599 | P>T | No |
ExAC gnomAD |
|
rs373017524 | 601 | T>K | No |
1000Genomes ESP ExAC gnomAD |
|
rs373017524 | 601 | T>M | No |
1000Genomes ESP ExAC gnomAD |
|
rs922888117 | 602 | Y>D | No | TOPMed | |
rs1439654910 | 602 | Y>S | No | gnomAD | |
rs750174534 | 603 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1158819805 | 604 | D>V | No |
TOPMed gnomAD |
|
COSM3578164 COSM3578165 |
605 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs934865278 | 607 | Q>E | No | TOPMed | |
rs1690496887 | 608 | A>G | No | Ensembl | |
rs1408714826 | 608 | A>T | No | gnomAD | |
COSM3695299 COSM3695298 rs978543585 |
610 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs376651409 | 610 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs757835718 | 613 | A>T | No |
ExAC gnomAD |
|
rs1479077799 | 614 | K>R | No | gnomAD | |
rs1559242911 | 616 | I>V | No | gnomAD | |
COSM3909679 COSM3909680 |
617 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1328946873 | 617 | D>N | No |
TOPMed gnomAD |
|
rs765720231 | 618 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1690495560 | 618 | A>V | No |
TOPMed gnomAD |
|
rs1443537232 | 619 | S>F | No |
TOPMed gnomAD |
|
rs760082018 | 619 | S>P | No |
ExAC gnomAD |
|
rs1443537232 | 619 | S>Y | No |
TOPMed gnomAD |
|
rs993030458 | 620 | C>* | No | Ensembl | |
rs1329778859 | 620 | C>G | No | TOPMed | |
rs1238575951 | 620 | C>Y | No | gnomAD | |
rs1690494689 | 621 | I>L | No | TOPMed | |
rs754191255 | 623 | I>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 624 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs10498111 | 625 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 625 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 626 | V>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs773524736 | 627 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1690493866 | 628 | G>R | No | Ensembl | |
rs1349459325 | 629 | V>A | No | gnomAD | |
COSM4826312 COSM4826313 |
634 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1574566652 | 636 | C>Y | No | Ensembl | |
rs904777556 | 639 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs147566564 RCV001985262 |
639 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs904777556 | 639 | R>S | No |
TOPMed gnomAD |
|
rs1690473468 | 641 | K>R | No | Ensembl | |
rs1043256637 | 642 | V>A | No |
TOPMed gnomAD |
|
rs377053299 | 644 | G>D | No |
ESP gnomAD |
|
rs377053299 | 644 | G>V | No |
ESP gnomAD |
|
rs1574566617 | 646 | R>S | No | Ensembl | |
rs1392603148 | 647 | E>D | No |
TOPMed gnomAD |
|
TCGA novel | 648 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1255388465 | 648 | I>V | No | gnomAD | |
rs1187109573 | 649 | C>S | No |
TOPMed gnomAD |
|
rs1187109573 | 649 | C>Y | No |
TOPMed gnomAD |
|
TCGA novel | 651 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2106105779 | 652 | I>V | No | 1000Genomes | |
rs1690471892 | 653 | K>T | No | Ensembl | |
rs2106105764 | 658 | G>D | No | Ensembl | |
rs1690470673 | 659 | Y>F | No | Ensembl | |
rs1690470590 | 660 | T>A | No | TOPMed | |
COSM6090787 COSM6090786 |
664 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs975672638 | 666 | D>G | No | Ensembl | |
rs759416479 | 667 | F>L | No |
ExAC gnomAD |
|
rs1463272908 | 669 | S>R | No | gnomAD | |
rs1690470137 | 671 | A>V | No | Ensembl | |
rs770725465 | 673 | I>T | No | ExAC | |
TCGA novel | 674 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1252090836 | 674 | M>I | No | TOPMed | |
rs777537789 | 678 | D>G | No |
ExAC gnomAD |
|
rs1293269800 | 679 | H>N | No | gnomAD | |
rs372198896 | 680 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs372198896 | 680 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
rs367921954 | 682 | I>V | No |
ESP TOPMed |
|
rs754610340 RCV001972268 |
684 | H>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751025331 | 688 | V>M | No |
ExAC gnomAD |
|
rs751734937 | 695 | V>L | No |
ExAC TOPMed gnomAD |
|
rs1332294584 | 698 | I>V | No | gnomAD | |
COSM4420707 COSM4420708 |
699 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764320268 | 700 | E>D | No |
ExAC gnomAD |
|
COSM6157341 COSM6157340 |
701 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1296426407 | 702 | M>V | No | gnomAD | |
rs758544317 | 703 | E>D | No |
ExAC gnomAD |
|
rs1461387354 | 703 | E>G | No |
TOPMed gnomAD |
|
COSM1692052 rs868069433 COSM1692051 |
703 | E>K | skin [Cosmic] | No |
cosmic curated Ensembl |
rs1174899151 | 705 | G>V | No | gnomAD | |
COSM1016971 COSM1016972 |
706 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752811601 | 709 | A>S | No |
ExAC TOPMed gnomAD |
|
rs752811601 | 709 | A>T | No |
ExAC TOPMed gnomAD |
|
rs746968633 | 710 | F>L | No | TOPMed | |
rs1690263805 | 712 | R>W | No | gnomAD | |
rs370645355 | 717 | R>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1207145160 | 717 | R>S | No | gnomAD | |
rs962061446 | 719 | T>I | No |
TOPMed gnomAD |
|
rs1690246342 | 724 | V>G | No | TOPMed | |
rs2106099085 | 726 | M>I | No | Ensembl | |
rs1014919480 | 726 | M>K | No |
TOPMed gnomAD |
|
rs1690245918 | 727 | L>F | No | gnomAD | |
rs1690245918 | 727 | L>I | No | gnomAD | |
COSM216558 COSM216557 rs376275374 |
728 | R>C | Variant assessed as Somatic; MODERATE impact. pancreas large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs750370585 | 728 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1166784898 | 729 | G>S | No |
TOPMed gnomAD |
|
rs1690245194 | 730 | I>M | No | gnomAD | |
rs767546349 | 730 | I>T | No |
ExAC gnomAD |
|
rs751412916 | 734 | M>T | No |
ExAC gnomAD |
|
rs1382416246 | 735 | K>T | No |
TOPMed gnomAD |
|
rs1307216138 | 737 | L>* | No | Ensembl | |
rs200282869 | 738 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
COSM1016969 COSM1016970 |
738 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762721061 | 739 | D>G | No |
ExAC gnomAD |
|
COSM4091836 COSM4091835 |
739 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1690244612 | 739 | D>Y | No | TOPMed | |
rs775243880 | 740 | M>V | No | ExAC | |
rs1176036722 | 741 | S>G | No |
TOPMed gnomAD |
|
rs1690244206 | 742 | Y>* | No | TOPMed | |
rs769432864 | 742 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1690244113 | 743 | V>L | No | TOPMed | |
COSM3578161 COSM3578160 |
745 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 745 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs898646182 | 747 | L>R | No | Ensembl | |
rs1163445850 | 747 | L>V | No |
TOPMed gnomAD |
|
rs139589907 | 749 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs139589907 | 749 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1340049984 | 749 | A>V | No |
TOPMed gnomAD |
|
rs771507400 | 750 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1690243162 | 754 | V>A | No | TOPMed | |
TCGA novel | 755 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1445335675 | 756 | S>N | No | gnomAD | |
rs1261355406 | 758 | L>F | No | gnomAD | |
rs1690242716 | 759 | V>F | No | Ensembl | |
rs147794174 | 760 | C>F | No |
ESP TOPMed |
|
rs1271994410 | 761 | K>N | No |
TOPMed gnomAD |
|
TCGA novel | 762 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs778222160 | 763 | S>C | No |
ExAC TOPMed gnomAD |
|
rs778222160 | 763 | S>F | No |
ExAC TOPMed gnomAD |
|
COSM3578156 COSM3578157 rs1218746876 |
764 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
COSM720564 COSM720565 |
765 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs543108757 | 766 | G>V | No |
1000Genomes ExAC gnomAD |
|
rs56159060 | 769 | R>* | No |
ExAC TOPMed gnomAD |
|
rs755176786 | 769 | R>Q | No |
ExAC gnomAD |
|
rs1690241060 | 771 | L>V | No | gnomAD | |
rs1432352843 | 772 | E>D | No | gnomAD | |
COSM337101 COSM337102 |
773 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1324152290 | 774 | D>H | No |
TOPMed gnomAD |
|
rs1324152290 | 774 | D>N | No |
TOPMed gnomAD |
|
rs200730212 | 775 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1260836606 | 777 | A>G | No |
TOPMed gnomAD |
|
rs200518563 | 778 | A>V | No | Ensembl | |
TCGA novel | 779 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1690239618 | 781 | T>A | No | TOPMed | |
rs1369769739 | 783 | G>S | No |
TOPMed gnomAD |
|
COSM1405746 COSM1405745 |
784 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs904937574 | 785 | K>N | No | Ensembl | |
rs1690164810 | 787 | P>S | No | TOPMed | |
rs1690164569 | 788 | I>N | No | Ensembl | |
rs1690164647 | 788 | I>V | No | TOPMed | |
rs199606862 | 789 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199606862 | 789 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1690164481 TCGA novel |
789 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
COSM6090789 COSM6090788 |
790 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760041934 | 791 | T>A | No |
ExAC gnomAD |
|
rs772762078 | 792 | A>E | No |
ExAC TOPMed gnomAD |
|
rs772762078 | 792 | A>G | No |
ExAC TOPMed gnomAD |
|
rs2106096655 | 792 | A>P | No | Ensembl | |
TCGA novel | 793 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1016967 COSM1016968 |
795 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1206570737 | 797 | A>V | No | gnomAD | |
TCGA novel rs1690163499 |
799 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs914099718 COSM1251291 COSM1251290 |
799 | R>H | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1690163243 | 804 | A>G | No | TOPMed | |
rs1429208033 | 804 | A>T | No | gnomAD | |
COSM4852227 rs1273295450 COSM4852228 |
805 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM1614427 COSM1614426 |
809 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1297542266 | 812 | I>V | No | TOPMed | |
rs775509386 | 813 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs769931238 | 814 | M>T | No |
ExAC gnomAD |
|
rs1690162639 | 814 | M>V | No | TOPMed | |
rs1218233138 | 815 | W>L | No | gnomAD | |
rs1690162269 | 818 | M>I | No |
TOPMed gnomAD |
|
COSM1016965 rs781417898 COSM1016966 |
819 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1350485081 | 820 | Y>C | No |
TOPMed gnomAD |
|
COSM1405744 rs1436714812 COSM1405743 |
821 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
COSM6090790 COSM6090791 |
821 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs887747697 | 822 | E>D | No | gnomAD | |
rs754661415 | 823 | R>K | No |
ExAC TOPMed gnomAD |
|
rs754661415 | 823 | R>T | No |
ExAC TOPMed gnomAD |
|
rs374909341 | 826 | W>* | No | ESP | |
COSM3578153 COSM3578152 |
827 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1690161099 | 828 | M>I | No | Ensembl | |
rs923374395 | 828 | M>V | No | TOPMed | |
COSM4091831 COSM4091832 |
829 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1424977340 | 829 | S>Y | No | gnomAD | |
rs766001735 | 830 | N>H | No |
ExAC gnomAD |
|
rs1690160787 | 831 | Q>K | No | TOPMed | |
rs1690160714 | 831 | Q>R | No | TOPMed | |
rs1421658409 | 833 | V>A | No | TOPMed | |
rs1690029458 | 834 | I>M | No | TOPMed | |
rs1690029328 | 837 | I>V | No | TOPMed | |
TCGA novel | 838 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1690029067 | 839 | E>G | No | TOPMed | |
TCGA novel | 839 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1180843498 | 840 | G>D | No | gnomAD | |
rs779866081 | 842 | R>L | No |
ExAC TOPMed gnomAD |
|
rs779866081 | 842 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs560055932 COSM210116 |
842 | R>W | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1574555246 | 843 | L>F | No | Ensembl | |
COSM3909675 COSM3909676 |
844 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1385989739 | 844 | P>R | No | TOPMed | |
rs780716002 | 844 | P>T | No |
ExAC gnomAD |
|
RCV001978346 rs752075336 |
845 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1690027812 | 845 | P>L | No | gnomAD | |
COSM3578151 rs752075336 COSM3578150 |
845 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs752075336 | 845 | P>T | No |
ExAC TOPMed gnomAD |
|
COSM5106516 | 846 | P>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1215288334 | 847 | M>V | No | gnomAD | |
rs1690027586 | 848 | D>N | No | TOPMed | |
rs1308099274 | 851 | I>L | No |
TOPMed gnomAD |
|
rs1212957127 | 851 | I>M | No |
TOPMed gnomAD |
|
rs764568007 | 851 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1308099274 | 851 | I>V | No |
TOPMed gnomAD |
|
rs1326256676 | 855 | Q>* | No | gnomAD | |
rs1326256676 | 855 | Q>K | No | gnomAD | |
COSM1016964 COSM1016963 |
857 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2106092371 | 857 | M>L | No | Ensembl | |
rs1056023957 | 859 | D>G | No | TOPMed | |
rs776926049 | 860 | C>G | No |
ExAC gnomAD |
|
rs1690026382 | 860 | C>Y | No | Ensembl | |
rs771148130 | 863 | K>T | No |
ExAC gnomAD |
|
rs773418289 | 864 | E>G | No |
ExAC gnomAD |
|
rs1464119769 | 865 | R>K | No |
TOPMed gnomAD |
|
rs749224993 | 866 | S>N | No |
ExAC TOPMed gnomAD |
|
COSM1016961 COSM1016962 |
867 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745528063 | 867 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs745528063 | 867 | D>Y | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 868 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs780769305 COSM4133514 COSM4133515 |
869 | P>A | thyroid [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs780769305 | 869 | P>S | No |
ExAC TOPMed gnomAD |
|
rs756889351 | 871 | F>S | No |
ExAC gnomAD |
|
rs756889351 | 871 | F>Y | No |
ExAC gnomAD |
|
rs868613699 | 872 | G>V | No | Ensembl | |
rs751138156 | 876 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1293446223 | 877 | M>V | No | gnomAD | |
rs1409366211 | 878 | L>W | No | gnomAD | |
TCGA novel | 879 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1690024791 | 880 | K>R | No | Ensembl | |
rs777306913 | 881 | L>F | No |
ExAC gnomAD |
|
rs142296640 | 883 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs765523420 | 883 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 883 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1388271957 | 884 | N>D | No |
TOPMed gnomAD |
|
rs1292899369 | 884 | N>I | No | gnomAD | |
rs1292899369 | 884 | N>S | No | gnomAD | |
rs755335356 | 885 | P>L | No |
ExAC TOPMed gnomAD |
|
rs755335356 | 885 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1690023641 | 886 | N>S | No | TOPMed | |
rs1574555040 | 887 | S>R | No | Ensembl | |
rs754240886 | 889 | K>R | No |
ExAC gnomAD |
|
rs1690023294 | 890 | R>G | No |
TOPMed gnomAD |
|
rs374390918 | 890 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
COSM256189 COSM256190 |
891 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1448349123 | 891 | T>S | No | gnomAD | |
rs1395369294 | 892 | G>E | No | gnomAD | |
rs1294073843 | 893 | T>A | No | TOPMed | |
rs142860268 RCV001887600 |
893 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1294073843 | 893 | T>S | No | TOPMed | |
rs767587519 | 895 | S>I | No |
ExAC TOPMed gnomAD |
|
rs760466873 | 895 | S>R | No |
TOPMed gnomAD |
|
rs767587519 | 895 | S>T | No |
ExAC TOPMed gnomAD |
|
COSM6157342 COSM6157343 |
896 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1689919724 | 898 | P>L | No | gnomAD | |
rs61731200 RCV000964895 |
899 | N>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759439482 | 900 | T>I | No |
ExAC TOPMed gnomAD |
|
rs759439482 | 900 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1689918963 | 901 | A>T | No | TOPMed | |
rs1158764547 | 901 | A>V | No |
TOPMed gnomAD |
|
TCGA novel rs2106089212 |
903 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1689918329 | 904 | D>H | No | Ensembl | |
COSM1631860 COSM1631861 |
904 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1689918056 | 905 | P>R | No | gnomAD | |
TCGA novel | 905 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs377085774 | 905 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1689917918 | 906 | S>N | No | Ensembl | |
rs772862033 | 907 | S>C | No |
ExAC gnomAD |
|
rs1689917491 | 908 | P>R | No | Ensembl | |
COSM1692048 COSM1692047 |
909 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs868141918 | 911 | S>F | No | Ensembl | |
RCV002031457 rs1689917240 |
912 | A>missing | No |
ClinVar dbSNP |
|
rs771609248 | 913 | V>A | No |
ExAC gnomAD |
|
rs1441906445 | 913 | V>M | No | gnomAD | |
rs1207092426 | 914 | V>L | No | gnomAD | |
rs778250722 | 915 | S>L | No |
ExAC gnomAD |
|
rs1227712057 | 917 | G>A | No | gnomAD | |
rs780599857 | 918 | D>N | No |
ExAC TOPMed gnomAD |
|
rs780599857 | 918 | D>Y | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 919 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1242040961 | 919 | W>L | No | gnomAD | |
COSM4397735 COSM4397736 |
920 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1016959 COSM1016960 |
920 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2106089119 | 921 | Q>* | No | Ensembl | |
rs1574552530 | 921 | Q>P | No | Ensembl | |
rs1689915934 | 922 | A>V | No | Ensembl | |
rs1339336870 | 923 | I>T | No | gnomAD | |
rs1689915858 | 923 | I>V | No | Ensembl | |
rs1689915615 TCGA novel |
924 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1237562136 | 925 | M>T | No |
TOPMed gnomAD |
|
COSM4843829 rs750627059 COSM4843830 |
927 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs569400142 | 927 | R>W | No |
ExAC TOPMed gnomAD |
|
rs2106089087 RCV001892730 |
928 | Y>C | No |
ClinVar Ensembl dbSNP |
|
rs781538913 | 930 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1468078506 | 930 | D>V | No | TOPMed | |
rs1462291653 | 931 | N>K | No | gnomAD | |
COSM4091829 COSM4091830 |
932 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs150029140 | 934 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
rs764137404 | 935 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1295241749 | 936 | G>S | No | gnomAD | |
rs1689913828 | 940 | L>I | No |
TOPMed gnomAD |
|
rs1689913747 | 941 | E>A | No |
TOPMed gnomAD |
|
rs753706663 | 943 | V>A | No |
ExAC gnomAD |
|
rs753706663 | 943 | V>G | No |
ExAC gnomAD |
|
RCV001979527 rs560424392 |
945 | H>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM32815 | 948 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775135616 | 950 | D>N | No |
ExAC gnomAD |
|
rs76959649 | 952 | A>E | No | Ensembl | |
rs1310363964 | 952 | A>P | No | gnomAD | |
TCGA novel rs1689898687 |
953 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
VAR_049721 rs35341687 |
953 | R>K | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
rs35341687 RCV002046534 |
953 | R>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1174520420 | 954 | I>T | No | gnomAD | |
rs1369980968 | 954 | I>V | No | gnomAD | |
COSM4091828 COSM4091827 |
955 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1689897780 | 957 | T>I | No | TOPMed | |
rs771163279 | 957 | T>P | No |
ExAC gnomAD |
|
rs1689897530 | 958 | A>V | No | Ensembl | |
rs747243818 | 959 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1689896933 | 960 | T>A | No | Ensembl | |
rs748264251 | 960 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs750286180 | 961 | H>Y | No |
ExAC gnomAD |
|
TCGA novel | 962 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 963 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1689896266 | 963 | N>S | No | TOPMed | |
TCGA novel | 967 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2106088567 | 967 | S>R | No | Ensembl | |
rs376541020 | 968 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 971 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1425015958 | 972 | M>I | No | TOPMed | |
rs757397148 | 972 | M>T | No |
TOPMed gnomAD |
|
rs202216669 | 973 | R>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs140023331 | 973 | R>L | No |
ESP ExAC gnomAD |
|
COSM5514912 COSM5514913 rs140023331 |
973 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
rs141897098 RCV001959442 |
974 | T>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1016955 COSM1016956 |
976 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1689894452 | 976 | M>T | No | Ensembl | |
rs1689894026 | 978 | Q>H | No | TOPMed | |
rs764606763 | 980 | H>L | No | ExAC | |
rs373468133 | 980 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs138231669 | 981 | G>S | No |
ESP ExAC gnomAD |
|
TCGA novel | 982 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1559234426 | 983 | M>I | No | Ensembl | |
rs747438072 | 984 | V>F | No |
ExAC TOPMed gnomAD |
|
rs747438072 | 984 | V>I | No |
ExAC TOPMed gnomAD |
|
rs141387215 | 986 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV001863492 rs141387215 |
986 | V>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779080753 | 987 | V>C | No |
ExAC TOPMed gnomAD |
|
rs779080753 | 987 | V>W | No |
ExAC TOPMed gnomAD |
No associated diseases with P54764
15 regional properties for P54764
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 621 - 882 | IPR000719 |
domain | Ephrin receptor ligand binding domain | 30 - 209 | IPR001090 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 621 - 878 | IPR001245 |
conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 185 - 205 | IPR001426-1 |
conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 247 - 267 | IPR001426-2 |
domain | Sterile alpha motif domain | 908 - 975 | IPR001660 |
domain | Fibronectin type III | 328 - 439 | IPR003961-1 |
domain | Fibronectin type III | 440 - 537 | IPR003961-2 |
active_site | Tyrosine-protein kinase, active site | 742 - 754 | IPR008266 |
domain | Tyrosine-protein kinase ephrin type A/B receptor-like | 269 - 306 | IPR011641 |
binding_site | Protein kinase, ATP binding site | 627 - 653 | IPR017441 |
domain | Tyrosine-protein kinase, catalytic domain | 621 - 878 | IPR020635 |
domain | Ephrin receptor, transmembrane domain | 550 - 618 | IPR027936 |
domain | Ephrin type-A receptor 4, SAM domain | 911 - 981 | IPR030602 |
domain | Ephrin type-A receptor 4, ligand binding domain | 30 - 203 | IPR034270 |
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 |
19 GO annotations of cellular component
Name | Definition |
---|---|
adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
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. |
axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
axonal growth cone | The migrating motile tip of a growing nerve cell axon. |
cell surface | The external part of the cell wall and/or plasma membrane. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
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. |
dendritic shaft | Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines. |
dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
early endosome membrane | The lipid bilayer surrounding an early endosome. |
filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
postsynaptic density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
12 GO annotations of molecular function
Name | Definition |
---|---|
amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
DH domain binding | Binding to a DH (Dbl homology) domain of a protein. The DH domain contains three structurally conserved regions separated by more variable regions. It is composed of 11 alpha helices that are folded into a flattened, elongated alpha-helix bundle in which two of the three conserved regions, conserved region 1 (CR1) and conserved region 3 (CR3), are exposed near the centre of one surface. CR1 and CR3, together with a part of alpha-6 and the DH/PH (pleckstrin homology) junction site, constitute the Rho GTPase interacting pocket. |
ephrin receptor binding | Binding to an ephrin receptor. |
GPI-linked ephrin receptor activity | Combining with a GPI-anchored ephrin to initiate a change in cell activity. |
identical protein binding | Binding to an identical protein or proteins. |
kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
PH domain binding | Binding to a PH domain (pleckstrin homology) of a protein, a domain of about 100 residues that occurs in a wide range of proteins involved in intracellular signaling or as constituents of the cytoskeleton. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
protein tyrosine kinase activity | Catalysis of the reaction |
protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
transmembrane-ephrin receptor activity | Combining with a transmembrane ephrin to initiate a change in cell activity. |
43 GO annotations of biological process
Name | Definition |
---|---|
adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
adult walking behavior | The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg. |
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. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
cellular response to amyloid-beta | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a amyloid-beta stimulus. |
cochlea development | The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound. |
corticospinal tract morphogenesis | Generation of a long process of a pyramidal cell, that carries efferent (outgoing) action potentials from the cell body in cerebral cortex layer V towards target cells in the gray matter of the spinal cord. This axonal process is a member of those that make up the corticospinal tract. |
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. |
fasciculation of motor neuron axon | The collection of motor neuron axons into a bundle of rods, known as a fascicle. |
fasciculation of sensory neuron axon | The collection of sensory neuron axons into a bundle of rods, known as a fascicle. |
glial cell migration | The orderly movement of a glial cell, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system. |
motor neuron axon guidance | The process in which the migration of an axon growth cone of a motor neuron is directed to a specific target site in response to a combination of attractive and repulsive cues. |
negative regulation of axon regeneration | Any process that stops, prevents, or reduces the frequency, rate or extent of axon regeneration. |
negative regulation of cell adhesion | Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. |
negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
negative regulation of cellular response to hypoxia | Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to hypoxia. |
negative regulation of epithelial to mesenchymal transition | Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
negative regulation of long-term synaptic potentiation | Any process that stops, prevents or reduces the frequency, rate or extent of long-term synaptic potentiation. |
negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
negative regulation of proteolysis involved in protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of proteolysis involved in protein catabolic process. |
negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
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 projection fasciculation | The collection of neuronal projections into a bundle of rods, known as a fascicle. |
neuron projection guidance | The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. |
peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
positive regulation of amyloid-beta formation | Any process that activates or increases the frequency, rate or extent of amyloid-beta formation. |
positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | Any process that activates or increases the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process. |
positive regulation of cell adhesion | Any process that activates or increases the frequency, rate or extent of cell adhesion. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of dendrite morphogenesis | Any process that activates or increases the frequency, rate or extent of dendrite morphogenesis. |
positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
positive regulation of Rho guanyl-nucleotide exchange factor activity | Any process that activates or increases the frequency, rate or extent of Rho guanyl-nucleotide exchange factor activity. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
regulation of astrocyte differentiation | Any process that modulates the frequency, rate or extent of astrocyte differentiation. |
regulation of axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
regulation of dendritic spine morphogenesis | Any process that modulates the rate, frequency, or extent of 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. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of modification of synaptic structure | Any process that modulates the frequency, rate or extent of modification of synaptic structure. |
regulation of synapse pruning | Any process that modulates the frequency, rate or extent of synapse pruning. |
synapse pruning | A cellular process that results in the controlled breakdown of synapse. After it starts the process is continuous until the synapse has disappeared. |
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 |
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 |
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 |
Q07496 | EPHA4 | Ephrin type-A receptor 4 | 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 |
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 |
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 |
Q61772 | Epha7 | Ephrin type-A receptor 7 | 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 |
Q03137 | Epha4 | Ephrin type-A receptor 4 | 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 |
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 |
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 |
MAGIFYFALF | SCLFGICDAV | TGSRVYPANE | VTLLDSRSVQ | GELGWIASPL | EGGWEEVSIM |
70 | 80 | 90 | 100 | 110 | 120 |
DEKNTPIRTY | QVCNVMEPSQ | NNWLRTDWIT | REGAQRVYIE | IKFTLRDCNS | LPGVMGTCKE |
130 | 140 | 150 | 160 | 170 | 180 |
TFNLYYYESD | NDKERFIREN | QFVKIDTIAA | DESFTQVDIG | DRIMKLNTEI | RDVGPLSKKG |
190 | 200 | 210 | 220 | 230 | 240 |
FYLAFQDVGA | CIALVSVRVF | YKKCPLTVRN | LAQFPDTITG | ADTSSLVEVR | GSCVNNSEEK |
250 | 260 | 270 | 280 | 290 | 300 |
DVPKMYCGAD | GEWLVPIGNC | LCNAGHEERS | GECQACKIGY | YKALSTDATC | AKCPPHSYSV |
310 | 320 | 330 | 340 | 350 | 360 |
WEGATSCTCD | RGFFRADNDA | ASMPCTRPPS | APLNLISNVN | ETSVNLEWSS | PQNTGGRQDI |
370 | 380 | 390 | 400 | 410 | 420 |
SYNVVCKKCG | AGDPSKCRPC | GSGVHYTPQQ | NGLKTTKVSI | TDLLAHTNYT | FEIWAVNGVS |
430 | 440 | 450 | 460 | 470 | 480 |
KYNPNPDQSV | SVTVTTNQAA | PSSIALVQAK | EVTRYSVALA | WLEPDRPNGV | ILEYEVKYYE |
490 | 500 | 510 | 520 | 530 | 540 |
KDQNERSYRI | VRTAARNTDI | KGLNPLTSYV | FHVRARTAAG | YGDFSEPLEV | TTNTVPSRII |
550 | 560 | 570 | 580 | 590 | 600 |
GDGANSTVLL | VSVSGSVVLV | VILIAAFVIS | RRRSKYSKAK | QEADEEKHLN | QGVRTYVDPF |
610 | 620 | 630 | 640 | 650 | 660 |
TYEDPNQAVR | EFAKEIDASC | IKIEKVIGVG | EFGEVCSGRL | KVPGKREICV | AIKTLKAGYT |
670 | 680 | 690 | 700 | 710 | 720 |
DKQRRDFLSE | ASIMGQFDHP | NIIHLEGVVT | KCKPVMIITE | YMENGSLDAF | LRKNDGRFTV |
730 | 740 | 750 | 760 | 770 | 780 |
IQLVGMLRGI | GSGMKYLSDM | SYVHRDLAAR | NILVNSNLVC | KVSDFGMSRV | LEDDPEAAYT |
790 | 800 | 810 | 820 | 830 | 840 |
TRGGKIPIRW | TAPEAIAYRK | FTSASDVWSY | GIVMWEVMSY | GERPYWDMSN | QDVIKAIEEG |
850 | 860 | 870 | 880 | 890 | 900 |
YRLPPPMDCP | IALHQLMLDC | WQKERSDRPK | FGQIVNMLDK | LIRNPNSLKR | TGTESSRPNT |
910 | 920 | 930 | 940 | 950 | 960 |
ALLDPSSPEF | SAVVSVGDWL | QAIKMDRYKD | NFTAAGYTTL | EAVVHVNQED | LARIGITAIT |
970 | 980 | ||||
HQNKILSSVQ | AMRTQMQQMH | GRMVPV |