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.Q254K

c.760C>A

Surrounding Variants

1 paper

NM_001281766.3

p.L255F

c.765G>T

1 paper

NM_001281766.3

p.L255F

c.765G>C

1 paper

NM_001281766.3

p.L255L

c.765G>A

1 paper

NM_001281766.3

p.D251E

c.753T>G

1 paper

NM_001281766.3

p.D251E

c.753T>A

1 paper

NM_001281766.3

p.E257*

c.769G>T

1 paper

NM_001281766.3

p.E257Q

c.769G>C

1 paper

NM_001281766.3

p.G249G

c.747A>T

1 paper

NM_001281766.3

p.S259P

c.775T>C

1 paper

NM_001281766.3

p.S259L

c.776C>T

1 paper

NM_001281766.3

p.S261F

c.782C>T

1 paper

NM_001281766.3

p.P244P

c.732T>C