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

2 papers

NM_004438.5

p.A321V

c.962C>T

Surrounding Variants

1 paper

NM_004438.5

p.A321G

c.962C>G

1 paper

NM_004438.5

p.A320A

c.960T>G

1 paper

NM_004438.5

p.P324L

c.971C>T

1 paper

NM_004438.5

p.T326I

c.977C>T

1 paper

NM_004438.5

p.G312V

c.935G>T

1 paper

NM_004438.5

p.T308I

c.923C>T

1 paper

NM_004438.5

p.C307insFs

c.919_920ins4

1 paper

NM_004438.5

p.A304T

c.910G>A

1 paper

NM_004438.5

p.G303R

c.907G>A

1 paper

NM_004438.5

p.E302K

c.904G>A

1 paper

NM_004438.5

p.W301*

c.903G>A

1 paper

NM_004438.5

p.W301*

c.902G>A