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.A865A

c.2595T>C

Surrounding Variants

1 paper

NM_004431.5

p.A865_D866del1

c.2594_2596delCAG

1 paper

NM_004431.5

p.F864_I867delFs

c.2590_2599del10

2 papers

NM_004431.5

p.V868I

c.2602G>A

1 paper

NM_001329090.2

p.V814V

c.2442C>T

1 paper

NM_004431.5

p.P862P

c.2586C>T

1 paper

NM_004431.5

p.P862R

c.2585C>G

1 paper

NM_004431.5

p.S869G

c.2605A>G

4 papers

NM_004431.5

p.R861C

c.2581C>T

1 paper

NM_004431.5

p.L871L

c.2611C>T

2 papers

NM_004431.5

p.R860C

c.2578C>T

1 paper

NM_004431.5

p.L871L

c.2613G>A

2 papers

NM_004431.5

p.A859D

c.2576C>A