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

1–12 of 249 variants

5 papers

NM_004438.5

p.K653M

c.1958A>T

4 papers

NM_004438.5

p.Y596F

c.1787A>T

4 papers

NM_004438.5

p.Y602F

c.1805A>T

3 papers

NM_004438.5

p.R230*

c.688C>T

3 papers

NM_004438.5

p.R717I

c.2150G>T

3 papers

NM_004438.5

p.P775L

c.2324C>T

3 papers

NM_004438.5

p.Y928F

c.2783A>T

2 papers

NM_004438.5

p.S23F

c.68C>T

2 papers

NM_004438.5

p.L124L

c.372G>C

2 papers

NM_004438.5

p.T286M

c.857C>T

2 papers

NM_004438.5

p.A291D

c.872C>A

2 papers

NM_004438.5

p.A321V

c.962C>T