Varaico: Literature-Extracted Genetic Variants

EPHA2

548 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 29–201UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 202–262UCSCEphrin cysteine rich domain

fn3aa 330–429UCSCFibronectin type III domain

fn3aa 437–525UCSCFibronectin type III domain

EphA2_TMaa 537–610UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 613–871UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A2

HGNC Previous Symbol

ECK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004431.5

p.G726D

c.2177G>A

Surrounding Variants

1 paper

NM_001329090.2

p.G672G

c.2016C>T

1 paper

NM_004431.5

p.A725A

c.2175T>C

1 paper

NM_004431.5

p.M727V

c.2179A>G

1 paper

NM_004431.5

p.M727T

c.2180T>C

1 paper

NM_004431.5

p.M727I

c.2181G>T

1 paper

NM_004431.5

p.M727I

c.2181G>C

1 paper

NM_004431.5

p.M727I

c.2181G>A

1 paper

NM_004431.5

p.M727delins

c.2180_2181delinsAA

1 paper

NM_004431.5

p.K728E

c.2182A>G

1 paper

NM_004431.5

p.A724A

c.2172A>G

1 paper

NM_004431.5

p.K728R

c.2183A>G

1 paper

NM_004431.5

p.K728K

c.2184G>A