Varaico: Literature-Extracted Genetic Variants

EPHA5

345 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 61–233UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 234–291UCSCEphrin cysteine rich domain

fn3aa 359–458UCSCFibronectin type III domain

fn3aa 470–558UCSCFibronectin type III domain

EphA2_TMaa 576–673UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 676–933UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A5

HGNC Alias Symbols

Hek7; TYRO4; CEK7; EHK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281766.3

p.G287R

c.859G>A

Surrounding Variants

1 paper

NM_001281766.3

p.G287R

c.859G>C

1 paper

NM_001281766.3

p.G287V

c.860G>T

1 paper

NM_001281766.3

p.I286N

c.857T>A

1 paper

NM_001281766.3

p.C289F

c.866G>T

1 paper

NM_001281766.3

p.V284V

c.852G>T

1 paper

NM_001281766.3

p.C291*

c.873C>A

1 paper

NM_001281766.3

p.A293E

c.878C>A

1 paper

NM_001281766.3

p.G294*

c.880G>T

4 papers

NM_001281766.3

p.E279K

c.835G>A

1 paper

NM_001281766.3

p.Y295Y

c.885T>C

1 paper

NM_001281766.3

p.A278V

c.833C>T

1 paper

NM_001281766.3

p.A278T

c.832G>A