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.G203V

c.608G>T

Surrounding Variants

1 paper

NM_001281766.3

p.G203*

c.607G>T

1 paper

NM_001281766.3

p.V202A

c.605T>C

1 paper

NM_001281766.3

p.V202L

c.604G>T

1 paper

NM_001281766.3

p.V202L

c.604G>C

1 paper

NM_001281766.3

p.L205I

c.613C>A

1 paper

NM_001281766.3

p.S206R

c.616A>C

1 paper

NM_001281766.3

p.S206N

c.617G>A

1 paper

NM_001281766.3

p.R200K

c.599G>A

1 paper

NM_001281766.3

p.S206R

c.618C>G

1 paper

NM_001281766.3

p.S206R

c.618C>A

1 paper

NM_001281766.3

p.V199G

c.596T>G

1 paper

NM_001281766.3

p.K207R

c.620A>G