Varaico: Literature-Extracted Genetic Variants

EPHA5

345 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 61–233UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 234–291UCSCEphrin cysteine rich domain

fn3aa 359–458UCSCFibronectin type III domain

fn3aa 470–558UCSCFibronectin type III domain

EphA2_TMaa 576–673UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 676–933UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A5

HGNC Alias Symbols

Hek7; TYRO4; CEK7; EHK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281766.3

p.E370*

c.1108G>T

Surrounding Variants

1 paper

NM_001281766.3

p.T371S

c.1111A>T

1 paper

NM_001281766.3

p.T371S

c.1112C>G

1 paper

NM_001281766.3

p.V368A

c.1103T>C

1 paper

NM_001281766.3

p.S372C

c.1114A>T

1 paper

NM_001281766.3

p.V373L

c.1117G>C

1 paper

NM_001281766.3

p.I365T

c.1094T>C

1 paper

NM_001281766.3

p.A364V

c.1091C>T

1 paper

NM_001281766.3

p.P361H

c.1082C>A

1 paper

NM_001281766.3

p.P361S

c.1081C>T

1 paper

NM_001281766.3

p.P379L

c.1136C>T

1 paper

NM_001281766.3

p.P358delFs

c.1074delG

1 paper

NM_001281766.3

p.S359fs

c.1075_1076fs