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.G759G

c.2277C>T

Surrounding Variants

1 paper

NM_004431.5

p.G759V

c.2276G>T

1 paper

NM_004431.5

p.F758C

c.2273T>G

2 papers

NM_004431.5

p.S761F

c.2282C>T

1 paper

NM_004431.5

p.S761S

c.2283C>T

3 papers

NM_004431.5

p.R762C

c.2284C>T

1 paper

NM_004431.5

p.D757H

c.2269G>C

7 papers

NM_004431.5

p.R762H

c.2285G>A

1 paper

NM_004431.5

p.R762delFs

c.2284delG

1 paper

NM_004431.5

p.R762R

c.2286C>T

1 paper

NM_004431.5

p.R762fs

c.2284_2285fs

1 paper

NM_004431.5

p.L760_R762delFs

c.2280_2284del5

2 papers

NM_004431.5

p.V763M

c.2287G>A