Varaico: Literature-Extracted Genetic Variants

EPHB4

302 papers

RefSeq Summary

Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided...

Pfam Domains

Ephrin_lbdaa 18–197UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 198–255UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 258–304UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 323–422UCSCFibronectin type III domain

fn3aa 435–525UCSCFibronectin type III domain

EphA2_TMaa 541–612UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor B4

HGNC Previous Symbol

HTK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004444.5

p.L497R

c.1490T>G

Surrounding Variants

1 paper

NM_004444.5

p.R499W

c.1495C>T

1 paper

NM_004444.5

p.K498delFs

c.1493_1494delCT

1 paper

NM_004444.5

p.R495W

c.1483C>T

1 paper

NM_004444.5

p.R491Q

c.1472G>A

1 paper

NM_004444.5

p.Y503delFs

c.1509delG

1 paper

NM_004444.5

p.V505insFs

c.1513_1514insAA

1 paper

NM_004444.5

p.T487T

c.1461G>A

1 paper

NM_004444.5

p.T487M

c.1460C>T

1 paper

NM_004444.5

p.L485delFs

c.1455delC

5 papers

NM_004444.5

p.A509G

c.1526C>G

1 paper

NM_004444.5

p.S480G

c.1438A>G

1 paper

NM_004444.5

p.Y515C

c.1544A>G