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.D353G

c.1058A>G

Surrounding Variants

1 paper

NM_004431.5

p.S354G

c.1060A>G

1 paper

NM_004431.5

p.S354R

c.1060A>C

3 papers

NM_004431.5

p.D353_S354insFs

c.1059_1060dupCA

1 paper

NM_004431.5

p.S354N

c.1061G>A

1 paper

NM_004431.5

p.Q352fs

c.1054_1055fs

2 papers

NM_004431.5

p.Q352*

c.1054C>T

1 paper

NM_004431.5

p.S354R

c.1062C>G

1 paper

NM_004431.5

p.S354R

c.1062C>A

1 paper

NM_004431.5

p.P351P

c.1053T>C

1 paper

NM_004431.5

p.G355W

c.1063G>T

4 papers

NM_004431.5

p.G355R

c.1063G>C

5 papers

NM_004431.5

p.G355R

c.1063G>A