Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.R79Q

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
1 paper
NM_017449.5
p.R79Q
c.236G>A
Surrounding Variants
1 paper
NM_017449.5
p.R79R
c.235C>A
3 papers
NM_017449.5
p.R79W
c.235C>T
1 paper
NM_017449.5
p.R80S
c.238C>A
1 paper
NM_017449.5
p.R80fs
c.238_239fs
3 papers
NM_017449.5
p.R80C
c.238C>T
4 papers
NM_017449.5
p.R80H
c.239G>A
1 paper
NM_017449.5
p.I78insFs
c.234dupC
4 papers
NM_017449.5
p.R81C
c.241C>T
1 paper
NM_017449.5
p.R81H
c.242G>A
1 paper
NM_017449.5
p.G82R
c.244G>C
1 paper
NM_017449.5
p.K76T
c.227A>C
1 paper
NM_017449.5
p.K76R
c.227A>G
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