Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.G299fs

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.G299fs
c.895_896fs
Surrounding Variants
1 paper
NM_017449.5
p.G299R
c.895G>A
1 paper
NM_017449.5
p.G299E
c.896G>A
1 paper
NM_017449.5
p.A300insFs
c.899dupC
1 paper
NM_017449.5
p.A300_V304delFs
c.899_911del13
1 paper
NM_017449.5
p.A300V
c.899C>T
1 paper
NM_017449.5
p.N302_N307del6
c.904_920del18
1 paper
NM_017449.5
p.T295T
c.885C>T
1 paper
NM_017449.5
p.T295A
c.883A>G
1 paper
NM_017449.5
p.R294Q
c.881G>A
2 papers
NM_017449.5
p.R294W
c.880C>T
1 paper
NM_017449.5
p.N292S
c.875A>G
1 paper
NM_017449.5
p.C305C
c.915C>T
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