Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.Y602C

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.Y602C
c.1805A>G
Surrounding Variants
1 paper
NM_017449.5
p.Y602F
c.1805A>T
3 papers
NM_017449.5
p.T601A
c.1801A>G
15 papers
NM_017449.5
p.F600Y
c.1799T>A
1 paper
NM_017449.5
p.F600C
c.1799T>G
1 paper
NM_017449.5
p.F600_P605delins
c.1799_1815delinsAAAAG
1 paper
NM_017449.5
p.F600delins
c.1798delinsTACA
1 paper
NM_017449.5
p.P599_F600ins1
c.1797_1798insACA
1 paper
NM_017449.5
p.P599L
c.1796C>T
1 paper
NM_017449.5
p.F600ins1
c.1798_1799insCTT
1 paper
NM_017449.5
p.P605P
c.1815C>T
1 paper
NM_017449.5
p.P599_N606del0
c.1795_1818del24
1 paper
NM_017449.5
p.D598_P599ins1
c.1794_1795insGTT
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