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.M966I

c.2898G>A

Surrounding Variants

1 paper

NM_001281766.3

p.N968D

c.2902A>G

1 paper

NM_001281766.3

p.N968H

c.2902A>C

1 paper

NM_001281766.3

p.E963D

c.2889G>T

1 paper

NM_001281766.3

p.E963D

c.2889G>C

1 paper

NM_001281766.3

p.E963Q

c.2887G>C

1 paper

NM_001281766.3

p.T962I

c.2885C>T

1 paper

NM_001281766.3

p.Y961C

c.2882A>G

1 paper

NM_001281766.3

p.R960L

c.2879G>T

1 paper

NM_001281766.3

p.G959V

c.2876G>T

1 paper

NM_001281766.3

p.D974N

c.2920G>A

1 paper

NM_001281766.3

p.G959D

c.2876G>A

1 paper

NM_001281766.3

p.G959S

c.2875G>A