Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.P40P

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.P40P
c.120A>T
Surrounding Variants
1 paper
NM_017449.5
p.P40R
c.119C>G
1 paper
NM_017449.5
p.P40T
c.118C>A
1 paper
NM_017449.5
p.P40S
c.118C>T
1 paper
NM_017449.5
p.P39H
c.116C>A
2 papers
NM_017449.5
p.P39A
c.115C>G
1 paper
NM_017449.5
p.G42Fs
c.125delinsTTFs
1 paper
NM_017449.5
p.V37A
c.110T>C
1 paper
NM_017449.5
p.V37M
c.109G>A
1 paper
NM_017449.5
p.M36I
c.108G>A
1 paper
NM_017449.5
p.M36V
c.106A>G
1 paper
NM_017449.5
p.M36L
c.106A>T
1 paper
NM_017449.5
p.W35*
c.104G>A
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