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

2 papers

NM_004431.5

p.G391E

c.1172G>A

Surrounding Variants

20 papers

NM_004431.5

p.G391R

c.1171G>C

20 papers

NM_004431.5

p.G391R

c.1171G>A

1 paper

NM_004431.5

p.G391G

c.1173A>G

1 paper

NM_004431.5

p.H390H

c.1170C>T

1 paper

NM_004431.5

p.L392P

c.1175T>C

1 paper

NM_004431.5

p.L392L

c.1176G>T

1 paper

NM_004431.5

p.L392L

c.1176G>A

2 papers

NM_004431.5

p.P389P

c.1167T>C

1 paper

NM_004431.5

p.T393I

c.1178C>T

1 paper

NM_004431.5

p.T393T

c.1179C>T

1 paper

NM_004431.5

p.P389S

c.1165C>T

2 papers

NM_004431.5

p.R394C

c.1180C>T