Varaico: Literature-Extracted Genetic Variants

Gene:BOC
Variant:p.S270R

BOC

81 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between...

Pfam Domains

Ig_3aa 35–109UCSCImmunoglobulin domain
I-setaa 130–214UCSCImmunoglobulin I-set domain
Ig_3aa 230–303UCSCImmunoglobulin domain
I-setaa 323–408UCSCImmunoglobulin I-set domain
ISET-FN3_linkeraa 409–473UCSCUnstructured linking region I-set and fnIII on Brother of CDO
fn3aa 475–566UCSCFibronectin type III domain

Gene Aliases

HGNC Name

BOC cell adhesion associated, oncogene regulated

HGNC Alias Symbols

CDON2; Boi

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001378074.1
p.S270R
c.810T>G
Surrounding Variants
2 papers
NM_001378074.1
p.S270R
c.810T>A
3 papers
NM_001378074.1
p.S270R
c.808A>C
1 paper
NM_001378074.1
p.D267V
c.800A>T
1 paper
NM_001378074.1
p.N275insFs
c.824_825ins10
1 paper
NM_001378074.1
p.S282N
c.845G>A
1 paper
NM_001378074.1
p.G256R
c.766G>A
1 paper
NM_001378074.1
p.G256R
c.766G>C
1 paper
NM_001378074.1
p.R298C
c.892C>T
1 paper
NM_001378074.1
p.I241I
c.723C>T
1 paper
NM_001378074.1
p.A301A
c.903C>T
4 papers
NM_001378074.1
p.D302N
c.904G>A
2 papers
NM_001378074.1
p.G309R
c.925G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."