Varaico: Literature-Extracted Genetic Variants

EPHA4

232 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 31–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–262UCSCEphrin cysteine rich domain

fn3aa 328–431UCSCFibronectin type III domain

fn3aa 439–531UCSCFibronectin type III domain

EphA2_TMaa 549–618UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 621–878UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A4

HGNC Previous Symbol

TYRO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004438.5

p.E670K

c.2008G>A

Surrounding Variants

2 papers

NM_004438.5

p.E670D

c.2010G>T

2 papers

NM_004438.5

p.E670D

c.2010G>C

1 paper

NM_004438.5

p.D666_F667insGGC

c.1996_2000ins9

1 paper

NM_004438.5

p.G675R

c.2023G>C

1 paper

NM_004438.5

p.G675R

c.2023G>A

1 paper

NM_004438.5

p.G675A

c.2024G>C

1 paper

NM_004438.5

p.D661H

c.1981G>C

1 paper

NM_004438.5

p.Y659C

c.1976A>G

5 papers

NM_004438.5

p.K653M

c.1958A>T

2 papers

NM_004438.5

p.K653R

c.1958A>G

1 paper

NM_004438.5

p.R639C

c.1915C>T

1 paper

NM_004438.5

p.E634K

c.1900G>A