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.T268S

c.802A>T

Surrounding Variants

1 paper

NM_001281766.3

p.T268I

c.803C>T

1 paper

NM_001281766.3

p.D269N

c.805G>A

1 paper

NM_001281766.3

p.D269E

c.807T>G

1 paper

NM_001281766.3

p.D269E

c.807T>A

1 paper

NM_001281766.3

p.H265D

c.793C>G

1 paper

NM_001281766.3

p.P271L

c.812C>T

1 paper

NM_001281766.3

p.P272P

c.816C>T

1 paper

NM_001281766.3

p.S261F

c.782C>T

1 paper

NM_001281766.3

p.S259L

c.776C>T

1 paper

NM_001281766.3

p.S259P

c.775T>C

1 paper

NM_001281766.3

p.A278T

c.832G>A

1 paper

NM_001281766.3

p.A278V

c.833C>T