Varaico: Literature-Extracted Genetic Variants

Gene:BOC
Variant:p.R347H

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
1 paper
NM_001378074.1
p.R347H
c.1040G>A
Surrounding Variants
3 papers
NM_001378074.1
p.C344Y
c.1031G>A
1 paper
NM_001378074.1
p.S353S
c.1059C>T
1 paper
NM_001378074.1
p.P335P
c.1005C>T
3 papers
NM_001378074.1
p.R370W
c.1108C>T
1 paper
NM_001378074.1
p.P322S
c.964C>T
1 paper
NM_001378074.1
p.R373H
c.1118G>A
3 papers
NM_001378074.1
p.E396Q
c.1186G>C
1 paper
NM_001378074.1
p.S399C
c.1195A>T
2 papers
NM_001378074.1
p.R407W
c.1219C>T
1 paper
NM_001378074.1
p.E321Splc
c.961+4A>G
1 paper
NM_001378074.1
p.A311V
c.932C>T
2 papers
NM_001378074.1
p.G309R
c.925G>A
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