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.G82R

c.244G>C

Surrounding Variants

1 paper

NM_001281766.3

p.N81fs

c.241_242fs

2 papers

NM_001281766.3

p.G82V

c.245G>T

1 paper

NM_001281766.3

p.G82A

c.245G>C

7 papers

NM_001281766.3

p.N81T

c.242A>C

1 paper

NM_001281766.3

p.P79T

c.235C>A

1 paper

NM_001281766.3

p.A77P

c.229G>C

1 paper

NM_001281766.3

p.I76N

c.227T>A

1 paper

NM_001281766.3

p.W75*

c.225G>A

1 paper

NM_001281766.3

p.W75*

c.224G>A

1 paper

NM_001281766.3

p.G74G

c.222A>T

1 paper

NM_001281766.3

p.G74*

c.220G>T

1 paper

NM_001281766.3

p.M70R

c.209T>G