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.N734S

c.2201A>G

Surrounding Variants

1 paper

NM_004431.5

p.N734D

c.2200A>G

1 paper

NM_004431.5

p.M733T

c.2198T>C

1 paper

NM_004431.5

p.M733V

c.2197A>G

1 paper

NM_004431.5

p.V736insFs

c.2206_2207insT

1 paper

NM_004431.5

p.N732N

c.2196C>T

1 paper

NM_004431.5

p.V736A

c.2207T>C

1 paper

NM_004431.5

p.A731_Y735del5

c.2191_2204del15

1 paper

NM_004431.5

p.N732D

c.2194A>G

1 paper

NM_004431.5

p.H737Y

c.2209C>T

1 paper

NM_004431.5

p.A731A

c.2193C>T

2 papers

NM_004431.5

p.A731V

c.2192C>T

1 paper

NM_004431.5

p.H737R

c.2210A>G