Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.C636S

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.C636S
c.1907G>C
Surrounding Variants
1 paper
NM_017449.5
p.C636F
c.1907G>T
1 paper
NM_017449.5
p.C636S
c.1906T>A
1 paper
NM_017449.5
p.C636insFs
c.1906_1907insC
1 paper
NM_017449.5
p.S637I
c.1910G>T
1 paper
NM_017449.5
p.E634E
c.1902G>A
1 paper
NM_017449.5
p.E634K
c.1900G>A
1 paper
NM_017449.5
p.F632L
c.1896T>A
1 paper
NM_017449.5
p.L642V
c.1924C>G
1 paper
NM_017449.5
p.L642P
c.1925T>C
1 paper
NM_017449.5
p.L642R
c.1925T>G
1 paper
NM_017449.5
p.P643T
c.1927C>A
1 paper
NM_017449.5
p.P643S
c.1927C>T
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