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

4 papers

NM_004431.5

p.R743H

c.2228G>A

Surrounding Variants

2 papers

NM_004431.5

p.R743C

c.2227C>T

1 paper

NM_004431.5

p.R743R

c.2229C>T

1 paper

NM_004431.5

p.A742V

c.2225C>T

1 paper

NM_004431.5

p.I745V

c.2233A>G

1 paper

NM_004431.5

p.A741T

c.2221G>A

1 paper

NM_004431.5

p.L740L

c.2220G>A

1 paper

NM_004431.5

p.L746F

c.2236C>T

1 paper

NM_004431.5

p.L746P

c.2237T>C

1 paper

NM_004431.5

p.L746L

c.2238C>T

1 paper

NM_004431.5

p.L740L

c.2218C>T

3 papers

NM_004431.5

p.V747I

c.2239G>A

NM_001329090.2

p.V693I

c.2077G>A

1 paper

NM_004431.5

p.D739D

c.2217C>T