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.R191G

c.571C>G

Surrounding Variants

2 papers

NM_001281766.3

p.R191C

c.571C>T

1 paper

NM_001281766.3

p.D190delins

c.569_570delinsGA

1 paper

NM_001281766.3

p.D190G

c.569A>G

1 paper

NM_001281766.3

p.V192I

c.574G>A

1 paper

NM_001281766.3

p.D187G

c.560A>G

1 paper

NM_001281766.3

p.D187fs

c.559_560fs

1 paper

NM_001281766.3

p.T197K

c.590C>A

1 paper

NM_001281766.3

p.T184A

c.550A>G

1 paper

NM_001281766.3

p.V199G

c.596T>G

1 paper

NM_001281766.3

p.R200K

c.599G>A

1 paper

NM_001281766.3

p.E181V

c.542A>T

1 paper

NM_001281766.3

p.V202L

c.604G>T