Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.A189V

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
2 papers
NM_017449.5
p.A189V
c.566C>T
Surrounding Variants
1 paper
NM_017449.5
p.A189S
c.565G>T
1 paper
NM_017449.5
p.V190M
c.568G>A
1 paper
NM_017449.5
p.I188delFs
c.563delT
2 papers
NM_017449.5
p.R191H
c.572G>A
1 paper
NM_017449.5
p.L187P
c.560T>C
1 paper
NM_017449.5
p.S186S
c.558C>A
1 paper
NM_017449.5
p.V192I
c.574G>A
1 paper
NM_017449.5
p.F193delFs
c.578delT
1 paper
NM_017449.5
p.S186A
c.556T>G
1 paper
NM_017449.5
p.F193I
c.577T>A
1 paper
NM_017449.5
p.F193L
c.577T>C
1 paper
NM_017449.5
p.F193Y
c.578T>A
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