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.N831I

c.2492A>T

Surrounding Variants

1 paper

NM_004431.5

p.N831N

c.2493T>C

1 paper

NM_004431.5

p.N831D

c.2491A>G

1 paper

NM_004431.5

p.I830T

c.2489T>C

1 paper

NM_004431.5

p.D832V

c.2495A>T

1 paper

NM_004431.5

p.D832G

c.2495A>G

1 paper

NM_004431.5

p.D832D

c.2496T>C

1 paper

NM_004431.5

p.I830V

c.2488A>G

1 paper

NM_004431.5

p.G833S

c.2497G>A

1 paper

NM_004431.5

p.A829V

c.2486C>T

1 paper

NM_004431.5

p.A829P

c.2485G>C

1 paper

NM_004431.5

p.A829T

c.2485G>A

1 paper

NM_004431.5

p.K828K

c.2484A>G