Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.C286S

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.C286S
c.857G>C
Surrounding Variants
1 paper
NM_017449.5
p.C286Y
c.857G>A
1 paper
NM_017449.5
p.C286S
c.856T>A
1 paper
NM_017449.5
p.T287I
c.860C>T
1 paper
NM_017449.5
p.C289G
c.865T>G
5 papers
NM_017449.5
p.D283H
c.847G>C
1 paper
NM_017449.5
p.C289W
c.867T>G
2 papers
NM_017449.5
p.P290S
c.868C>T
3 papers
NM_017449.5
p.P290H
c.869C>A
1 paper
NM_017449.5
p.P290L
c.869C>T
1 paper
NM_017449.5
p.G282W
c.844G>T
1 paper
NM_017449.5
p.N292S
c.875A>G
1 paper
NM_017449.5
p.A279V
c.836C>T
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