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.G948G

c.2844G>A

Surrounding Variants

3 papers

NM_004431.5

p.V949L

c.2845G>T

3 papers

NM_004431.5

p.V949L

c.2845G>C

1 paper

NM_004431.5

p.G948A

c.2843G>C

1 paper

NM_004431.5

p.G948E

c.2843G>A

1 paper

NM_001329090.2

p.V895A

c.2684T>C

NM_004431.5

p.V949A

c.2846T>C

15 papers

NM_004431.5

p.G948W

c.2842G>T

1 paper

NM_004431.5

p.G948R

c.2842G>C

1 paper

NM_004431.5

p.G948R

c.2842G>A

4 papers

NM_001329090.2

p.R896W

c.2686C>T

NM_004431.5

p.R950W

c.2848C>T

1 paper

NM_004431.5

p.I947V

c.2839A>G

1 paper

NM_004431.5

p.R946R

c.2838G>A

2 papers

NM_004431.5

p.R946K

c.2837G>A