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.K167N

c.501G>C

Surrounding Variants

1 paper

NM_001281766.3

p.K167N

c.501G>T

2 papers

NM_001281766.3

p.Y171D

c.511T>G

2 papers

NM_001281766.3

p.R164K

c.491G>A

1 paper

NM_001281766.3

p.Y171fs

c.511_512fs

1 paper

NM_001281766.3

p.Y171insFs

c.511dupT

1 paper

NM_001281766.3

p.G163V

c.488G>T

1 paper

NM_001281766.3

p.I172N

c.515T>A

2 papers

NM_001281766.3

p.G163W

c.487G>T

1 paper

NM_001281766.3

p.I174F

c.520A>T

1 paper

NM_001281766.3

p.I174T

c.521T>C

1 paper

NM_001281766.3

p.I174N

c.521T>A

1 paper

NM_001281766.3

p.Q161E

c.481C>G