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.R615Q

c.1844G>A

Surrounding Variants

1 paper

NM_004431.5

p.R615R

c.1845G>A

1 paper

NM_004431.5

p.R615W

c.1843C>T

1 paper

NM_004431.5

p.T614T

c.1842T>C

1 paper

NM_004431.5

p.Q616*

c.1846C>T

1 paper

NM_004431.5

p.Q616R

c.1847A>G

1 paper

NM_001329090.2

p.Q562Q

c.1686G>A

NM_004431.5

p.Q616Q

c.1848G>A

1 paper

NM_004431.5

p.T614A

c.1840A>G

2 papers

NM_004431.5

p.T614P

c.1840A>C

1 paper

NM_004431.5

p.K617E

c.1849A>G

1 paper

NM_004431.5

p.V613A

c.1838T>C

1 paper

NM_004431.5

p.V613D

c.1838T>A

1 paper

NM_004431.5

p.K617R

c.1850A>G