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.N483_T487delFs

c.1447_1459del13

Surrounding Variants

1 paper

NM_004431.5

p.T487T

c.1461C>T

1 paper

NM_004431.5

p.T487A

c.1459A>G

1 paper

NM_004431.5

p.E488*

c.1462G>T

1 paper

NM_004431.5

p.E488K

c.1462G>A

4 papers

NM_004431.5

p.R486H

c.1457G>A

1 paper

NM_004431.5

p.E488G

c.1463A>G

1 paper

NM_004431.5

p.R486C

c.1456C>T

1 paper

NM_004431.5

p.R485H

c.1454G>A

1 paper

NM_004431.5

p.G489G

c.1467T>C

1 paper

NM_004431.5

p.R485C

c.1453C>T

1 paper

NM_004431.5

p.F490L

c.1468T>C

1 paper

NM_004431.5

p.F490S

c.1469T>C