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

3 papers

NM_004438.5

p.R230*

c.688C>T

Surrounding Variants

1 paper

NM_004438.5

p.E228K

c.682G>A

1 paper

NM_004438.5

p.S225T

c.673T>A

1 paper

NM_004438.5

p.T223M

c.668C>T

1 paper

NM_004438.5

p.D222_T223ins1

c.666_667insGGC

1 paper

NM_004438.5

p.D222G

c.665A>G

1 paper

NM_004438.5

p.S237S

c.711A>C

1 paper

NM_004438.5

p.D222N

c.664G>A

1 paper

NM_004438.5

p.G220R

c.658G>A

1 paper

NM_004438.5

p.P243P

c.729A>G

1 paper

NM_004438.5

p.Y246S

c.737A>C

1 paper

NM_004438.5

p.C247R

c.739T>C

1 paper

NM_004438.5

p.L211V

c.631C>G