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.K343R

c.1028A>G

Surrounding Variants

1 paper

NM_004431.5

p.K343E

c.1027A>G

1 paper

NM_004431.5

p.A342A

c.1026C>T

1 paper

NM_004431.5

p.V344A

c.1031T>C

1 paper

NM_004431.5

p.V344V

c.1032G>A

1 paper

NM_004431.5

p.G341G

c.1023T>C

1 paper

NM_004431.5

p.E345G

c.1034A>G

1 paper

NM_004431.5

p.E345E

c.1035G>A

1 paper

NM_004431.5

p.L346L

c.1036C>T

1 paper

NM_004431.5

p.L346P

c.1037T>C

1 paper

NM_004431.5

p.M340T

c.1019T>C

1 paper

NM_004431.5

p.M340fs

c.1018_1019fs

1 paper

NM_004431.5

p.R347C

c.1039C>T