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.V397V

c.1191G>A

Surrounding Variants

1 paper

NM_004431.5

p.T398A

c.1192A>G

1 paper

NM_004431.5

p.S396S

c.1188T>C

1 paper

NM_004431.5

p.T398T

c.1194A>G

1 paper

NM_004431.5

p.V399A

c.1196T>C

1 paper

NM_004431.5

p.S396G

c.1186A>G

1 paper

NM_001329090.2

p.V345V

c.1035G>A

1 paper

NM_004431.5

p.T395T

c.1185C>T

1 paper

NM_004431.5

p.T395I

c.1184C>T

1 paper

NM_004431.5

p.S400G

c.1198A>G

1 paper

NM_004431.5

p.S400N

c.1199G>A

1 paper

NM_004431.5

p.R394fs

c.1180_1181fs

1 paper

NM_004431.5

p.D401Y

c.1201G>T