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.L124L

c.372G>C

Surrounding Variants

1 paper

NM_004438.5

p.Y127F

c.380A>T

1 paper

NM_004438.5

p.Y127C

c.380A>G

1 paper

NM_004438.5

p.D130H

c.388G>C

1 paper

NM_004438.5

p.G116E

c.347G>A

1 paper

NM_004438.5

p.V114A

c.341T>C

1 paper

NM_004438.5

p.R135C

c.403C>T

1 paper

NM_004438.5

p.R135H

c.404G>A

1 paper

NM_004438.5

p.V114I

c.340G>A

1 paper

NM_004438.5

p.F136L

c.406T>C

1 paper

NM_004438.5

p.F136L

c.408C>G

1 paper

NM_004438.5

p.F136L

c.408C>A

1 paper

NM_004438.5

p.P112S

c.334C>T