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.I485V

c.1453A>G

Surrounding Variants

1 paper

NM_001281766.3

p.S484R

c.1452C>G

1 paper

NM_001281766.3

p.S484R

c.1452C>A

1 paper

NM_001281766.3

p.S484R

c.1450A>C

1 paper

NM_001281766.3

p.S486F

c.1457C>T

1 paper

NM_001281766.3

p.N483K

c.1449C>G

1 paper

NM_001281766.3

p.N483fs

c.1447_1448fs

2 papers

NM_001281766.3

p.N483insFs

c.1448dupA

1 paper

NM_001281766.3

p.N483K

c.1449C>A

1 paper

NM_001281766.3

p.N483fs

c.1447_1448fs

1 paper

NM_001281766.3

p.S488T

c.1462T>A

1 paper

NM_001281766.3

p.G478R

c.1432G>C

1 paper

NM_001281766.3

p.G478R

c.1432G>A