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.K713R

c.2138A>G

Surrounding Variants

3 papers

NM_004438.5

p.R717I

c.2150G>T

1 paper

NM_004438.5

p.R712_K713Splc

c.2137-29A>G

1 paper

NM_004438.5

p.M726I

c.2178G>T

1 paper

NM_004438.5

p.M726I

c.2178G>C

1 paper

NM_004438.5

p.M726I

c.2178G>A

2 papers

NM_004438.5

p.R728C

c.2182C>T

1 paper

NM_004438.5

p.I730V

c.2188A>G

1 paper

NM_004438.5

p.G733W

c.2197G>T

1 paper

NM_004438.5

p.M740T

c.2219T>C

1 paper

NM_004438.5

p.V743M

c.2227G>A

1 paper

NM_004438.5

p.R745C

c.2233C>T

1 paper

NM_004438.5

p.L747V

c.2239C>G