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.L450L

c.1348T>C

Surrounding Variants

1 paper

NM_001281766.3

p.L450V

c.1348T>G

3 papers

NM_001281766.3

p.L450F

c.1350G>T

3 papers

NM_001281766.3

p.L450F

c.1350G>C

1 paper

NM_001281766.3

p.D449H

c.1345G>C

3 papers

NM_001281766.3

p.D449N

c.1345G>A

1 paper

NM_001281766.3

p.D449fs

c.1345_1346fs

1 paper

NM_001281766.3

p.S451G

c.1351A>G

1 paper

NM_001281766.3

p.S451I

c.1352G>T

2 papers

NM_001281766.3

p.P452A

c.1354C>G

1 paper

NM_001281766.3

p.P452Q

c.1355C>A

1 paper

NM_001281766.3

p.G453V

c.1358G>T

1 paper

NM_001281766.3

p.G453E

c.1358G>A