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.P378S

c.1132C>T

Surrounding Variants

1 paper

NM_004431.5

p.G377G

c.1131G>A

1 paper

NM_004431.5

p.P378L

c.1133C>T

1 paper

NM_004431.5

p.P378P

c.1134G>A

1 paper

NM_004431.5

p.C379R

c.1135T>C

1 paper

NM_004431.5

p.C379Y

c.1136G>A

1 paper

NM_004431.5

p.C376C

c.1128C>T

1 paper

NM_004431.5

p.C376Y

c.1127G>A

1 paper

NM_004431.5

p.E380G

c.1139A>G

1 paper

NM_004431.5

p.E375E

c.1125A>G

1 paper

NM_004431.5

p.E380E

c.1140G>A

1 paper

NM_004431.5

p.E375G

c.1124A>G

2 papers

NM_004431.5

p.E375*

c.1123G>T