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.L730L

c.2188C>T

Surrounding Variants

1 paper

NM_004431.5

p.A724_Y729delFs

c.2171_2186del16

1 paper

NM_004431.5

p.L730insFs

c.2189_2190insA

1 paper

NM_004431.5

p.L730P

c.2189T>C

1 paper

NM_004431.5

p.Y729Y

c.2187C>T

1 paper

NM_004431.5

p.K728K

c.2184G>A

2 papers

NM_004431.5

p.A731V

c.2192C>T

1 paper

NM_004431.5

p.A731A

c.2193C>T

1 paper

NM_004431.5

p.K728R

c.2183A>G

1 paper

NM_004431.5

p.N732D

c.2194A>G

1 paper

NM_004431.5

p.K728E

c.2182A>G

1 paper

NM_004431.5

p.M727I

c.2181G>T

1 paper

NM_004431.5

p.M727I

c.2181G>C