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.A770T

c.2308G>A

Surrounding Variants

1 paper

NM_004431.5

p.E769V

c.2306A>T

1 paper

NM_004431.5

p.E769G

c.2306A>G

1 paper

NM_004431.5

p.E769K

c.2305G>A

1 paper

NM_004431.5

p.P768delFs

c.2303delG

1 paper

NM_004431.5

p.T771A

c.2311A>G

1 paper

NM_004431.5

p.P768P

c.2304C>T

2 papers

NM_004431.5

p.P768L

c.2303C>T

1 paper

NM_004431.5

p.T771T

c.2313C>T

1 paper

NM_004431.5

p.P768S

c.2302C>T

1 paper

NM_004431.5

p.D767D

c.2301C>T

3 papers

NM_004431.5

p.Y772F

c.2315A>T

1 paper

NM_004431.5

p.Y772Y

c.2316C>T