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

3 papers

NM_001281766.3

p.R135W

c.403C>T

Surrounding Variants

1 paper

NM_001281766.3

p.D136Y

c.406G>T

1 paper

NM_001281766.3

p.D136N

c.406G>A

1 paper

NM_001281766.3

p.C137S

c.410G>C

2 papers

NM_001281766.3

p.C137Y

c.410G>A

1 paper

NM_001281766.3

p.K131E

c.391A>G

1 paper

NM_001281766.3

p.P141T

c.421C>A

1 paper

NM_001281766.3

p.G142E

c.425G>A

1 paper

NM_001281766.3

p.F127L

c.381C>G

1 paper

NM_001281766.3

p.F127L

c.381C>A

1 paper

NM_001281766.3

p.F127L

c.379T>C

1 paper

NM_001281766.3

p.G143R

c.427G>C

1 paper

NM_001281766.3

p.G143R

c.427G>A