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.N963K

c.2889T>G

Surrounding Variants

2 papers

NM_004438.5

p.N963K

c.2889T>A

2 papers

NM_004438.5

p.T960T

c.2880G>A

1 paper

NM_004438.5

p.A958T

c.2872G>A

1 paper

NM_004438.5

p.I956M

c.2868C>G

1 paper

NM_004438.5

p.R973Q

c.2918G>A

1 paper

NM_004438.5

p.T974I

c.2921C>T

1 paper

NM_004438.5

p.M976K

c.2927T>A

1 paper

NM_004438.5

p.V986I

c.2956G>A

1 paper

NM_004438.5

p.E949Splc

c.2847-40T>C

2 papers

NM_004438.5

p.Q948*

c.2842C>T

3 papers

NM_004438.5

p.Y928F

c.2783A>T

1 paper

NM_004438.5

p.L920P

c.2759T>C