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.R227P

c.680G>C

Surrounding Variants

1 paper

NM_001281766.3

p.R227L

c.680G>T

1 paper

NM_001281766.3

p.R227H

c.680G>A

1 paper

NM_001281766.3

p.R227C

c.679C>T

1 paper

NM_001281766.3

p.V228I

c.682G>A

1 paper

NM_001281766.3

p.Y229*

c.687C>G

1 paper

NM_001281766.3

p.Y229*

c.687C>A

1 paper

NM_001281766.3

p.V224F

c.670G>T

1 paper

NM_001281766.3

p.K231fs

c.691_692fs

1 paper

NM_001281766.3

p.K232fs

c.694_695fs

1 paper

NM_001281766.3

p.A222T

c.664G>A

1 paper

NM_001281766.3

p.K232fs

c.694_695fs

1 paper

NM_001281766.3

p.K231insFs

c.691dupA