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.G339G

c.1017C>T

Surrounding Variants

1 paper

NM_004431.5

p.M340fs

c.1018_1019fs

1 paper

NM_004431.5

p.M340T

c.1019T>C

1 paper

NM_004431.5

p.G339C

c.1015G>T

1 paper

NM_001329090.2

p.V284V

c.852G>A

1 paper

NM_004431.5

p.V338A

c.1013T>C

2 papers

NM_004431.5

p.V338M

c.1012G>A

1 paper

NM_004431.5

p.G341G

c.1023T>C

1 paper

NM_004431.5

p.A337T

c.1009G>A

1 paper

NM_004431.5

p.A342A

c.1026C>T

1 paper

NM_004431.5

p.T336T

c.1008A>G

1 paper

NM_004431.5

p.K343E

c.1027A>G

1 paper

NM_004431.5

p.K343R

c.1028A>G