Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.N52I

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.N52I
c.155A>T
Surrounding Variants
1 paper
NM_017449.5
p.E51V
c.152A>T
1 paper
NM_017449.5
p.M53K
c.158T>A
2 papers
NM_017449.5
p.M53_T58del0
c.159_173del15
1 paper
NM_017449.5
p.M53I
c.159G>A
1 paper
NM_017449.5
p.M53I
c.159G>C
1 paper
NM_017449.5
p.M53I
c.159G>T
3 papers
NM_017449.5
p.N54Y
c.160A>T
1 paper
NM_017449.5
p.E51delFs
c.151_152delGA
11 papers
NM_017449.5
p.Y49F
c.146A>T
2 papers
NM_017449.5
p.T55K
c.164C>A
1 paper
NM_017449.5
p.T55insFs
c.164_165insG
2 papers
NM_017449.5
p.T55M
c.164C>T
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