Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.R223Q

EPHB2

2,780 papers

RefSeq Summary

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a trans...

Pfam Domains

Ephrin_lbdaa 21–197UCSCEphrin receptor ligand binding domain
Ephrin_CRDaa 198–256UCSCEphrin cysteine rich domain
Ephrin_rec_likeaa 260–304UCSCTyrosine-protein kinase ephrin type A/B receptor-like
fn3aa 326–427UCSCFibronectin type III domain
fn3aa 434–526UCSCFibronectin type III domain
EphA2_TMaa 544–618UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor B2

HGNC Previous Symbols

DRT; ERK; EPHT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_017449.5
p.R223Q
c.668G>A
Surrounding Variants
3 papers
NM_017449.5
p.R223W
c.667C>T
1 paper
NM_017449.5
p.G224_S225insC
c.670_674ins3
2 papers
NM_017449.5
p.A222V
c.665C>T
1 paper
NM_017449.5
p.G224G
c.672C>G
1 paper
NM_017449.5
p.G224G
c.672C>T
1 paper
NM_017449.5
p.S225G
c.673A>G
1 paper
NM_017449.5
p.S225C
c.673A>T
1 paper
NM_017449.5
p.S225N
c.674G>A
1 paper
NM_017449.5
p.S225S
c.675C>T
1 paper
NM_017449.5
p.C226C
c.678C>T
1 paper
NM_017449.5
p.V220M
c.658G>A
1 paper
NM_017449.5
p.L219L
c.657G>A
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