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

3 papers

NM_004431.5

p.S330F

c.989C>T

Surrounding Variants

3 papers

NM_004431.5

p.S330insFs

c.988dupT

3 papers

NM_004431.5

p.P329delFs

c.987delG

1 paper

NM_004431.5

p.S330S

c.990C>T

1 paper

NM_004431.5

p.S330fs

c.988_989fs

6 papers

NM_004431.5

p.S330fs

c.988_989fs

4 papers

NM_004431.5

p.P329P

c.987C>T

1 paper

NM_004431.5

p.P329_S330insFs

c.987_988insT

1 paper

NM_004431.5

p.P329fs

c.985_986fs

1 paper

NM_004431.5

p.P329Fs

c.986_987delinsTFs

1 paper

NM_004431.5

p.P329L

c.986C>T

1 paper

NM_004431.5

p.P329S

c.985C>T

1 paper

NM_001329090.2

p.P278S

c.832C>T

NM_004431.5

p.P332S

c.994C>T