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

14 papers

NM_004431.5

p.T940I

c.2819C>T

Surrounding Variants

1 paper

NM_004431.5

p.N941D

c.2821A>G

1 paper

NM_004431.5

p.N941H

c.2821A>C

1 paper

NM_004431.5

p.N941S

c.2822A>G

2 papers

NM_004431.5

p.D942N

c.2824G>A

1 paper

NM_004431.5

p.D942G

c.2825A>G

4 papers

NM_004431.5

p.D942Splc

c.2825+1G>A

1 paper

NM_004431.5

p.V937A

c.2810T>C

1 paper

NM_001329090.2

p.V882V

c.2646G>A

1 paper

NM_004431.5

p.V936A

c.2807T>C

1 paper

NM_004431.5

p.K935K

c.2805G>A

1 paper

NM_004431.5

p.K935R

c.2804A>G

4 papers

NM_004431.5

p.K935*

c.2803A>T