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.I805I

c.2415T>C

Surrounding Variants

1 paper

NM_004431.5

p.I805T

c.2414T>C

1 paper

NM_004431.5

p.I805V

c.2413A>G

1 paper

NM_004431.5

p.M807V

c.2419A>G

1 paper

NM_004431.5

p.M807T

c.2420T>C

1 paper

NM_004431.5

p.G804S

c.2410G>A

1 paper

NM_004431.5

p.F803F

c.2409T>C

1 paper

NM_004431.5

p.W808*

c.2423G>A

1 paper

NM_004431.5

p.W808*

c.2424G>A

3 papers

NM_004431.5

p.E809K

c.2425G>A

1 paper

NM_004431.5

p.E809G

c.2426A>G

1 paper

NM_004431.5

p.S802G

c.2404A>G

1 paper

NM_004431.5

p.W801C

c.2403G>T