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.T423A

c.1267A>G

Surrounding Variants

1 paper

NM_001329090.2

p.T369T

c.1107C>T

NM_004431.5

p.T423T

c.1269C>T

1 paper

NM_004431.5

p.S424I

c.1271G>T

1 paper

NM_004431.5

p.S424S

c.1272C>T

1 paper

NM_004431.5

p.R425H

c.1274G>A

1 paper

NM_004431.5

p.G420V

c.1259G>T

1 paper

NM_001329090.2

p.R371R

c.1113C>A

1 paper

NM_004431.5

p.S426S

c.1278C>T

1 paper

NM_004431.5

p.S419L

c.1256C>T

6 papers

NM_004431.5

p.S419*

c.1256C>G

6 papers

NM_004431.5

p.S419*

c.1256C>A

1 paper

NM_004431.5

p.F427L

c.1279T>C

1 paper

NM_004431.5

p.F427L

c.1281C>G