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.R357R

c.1071C>T

Surrounding Variants

4 papers

NM_004431.5

p.R357H

c.1070G>A

1 paper

NM_004431.5

p.E358K

c.1072G>A

1 paper

NM_004431.5

p.R357C

c.1069C>T

1 paper

NM_004431.5

p.E358E

c.1074G>A

1 paper

NM_004431.5

p.G355delFs

c.1063delC

1 paper

NM_004431.5

p.G356D

c.1067G>A

1 paper

NM_004431.5

p.D359G

c.1076A>G

1 paper

NM_004431.5

p.G355G

c.1065G>A

1 paper

NM_004431.5

p.D359D

c.1077C>T

1 paper

NM_004431.5

p.G355E

c.1064G>A

1 paper

NM_004431.5

p.R347_G355delFs

c.1041_1063del23

2 papers

NM_004431.5

p.I360T

c.1079T>C