Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.A279S

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
9 papers
NM_017449.5
p.A279S
c.835G>T
Surrounding Variants
1 paper
NM_017449.5
p.A279V
c.836C>T
1 paper
NM_017449.5
p.A279delFs
c.835delG
1 paper
NM_017449.5
p.K278*
c.832A>T
1 paper
NM_017449.5
p.K278fs
c.832_833fs
1 paper
NM_017449.5
p.G282W
c.844G>T
5 papers
NM_017449.5
p.D283H
c.847G>C
1 paper
NM_017449.5
p.S274F
c.821C>T
2 papers
NM_017449.5
p.S274A
c.820T>G
1 paper
NM_017449.5
p.P273L
c.818C>T
2 papers
NM_017449.5
p.P273insFs
c.817dupC
1 paper
NM_017449.5
p.C286S
c.856T>A
1 paper
NM_017449.5
p.C286Y
c.857G>A
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