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.Q40*

c.118C>T

Surrounding Variants

1 paper

NM_004438.5

p.G41A

c.122G>C

1 paper

NM_004438.5

p.S38T

c.112T>A

1 paper

NM_004438.5

p.E42insFs

c.124dupG

1 paper

NM_004438.5

p.R37K

c.110G>A

1 paper

NM_004438.5

p.L43R

c.128T>G

1 paper

NM_004438.5

p.W45R

c.133T>C

1 paper

NM_004438.5

p.W45R

c.133T>A

1 paper

NM_004438.5

p.L34V

c.100T>G

1 paper

NM_004438.5

p.L33*

c.98T>G

1 paper

NM_004438.5

p.A47G

c.140C>G

1 paper

NM_004438.5

p.A47E

c.140C>A

1 paper

NM_004438.5

p.P49A

c.145C>G