Varaico: Literature-Extracted Genetic Variants

Gene:BOC
Variant:p.R570Q

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.R570Q
c.1709G>A
Surrounding Variants
1 paper
NM_001378074.1
p.G569E
c.1706G>A
1 paper
NM_033254.4
p.G556E
c.1667G>A
1 paper
NM_001378074.1
p.A556V
c.1667C>T
1 paper
NM_033254.4
p.R533L
c.1598G>T
1 paper
NM_001378074.1
p.H533Y
c.1597C>T
1 paper
NM_001378074.1
p.S616F
c.1847C>T
1 paper
NM_001378074.1
p.T617M
c.1850C>T
1 paper
NM_001378074.1
p.G631R
c.1891G>A
1 paper
NM_001378074.1
p.R681*
c.2041C>T
1 paper
NM_001378074.1
p.E692K
c.2074G>A
1 paper
NM_033254.4
p.R697P
c.2090G>C
1 paper
NM_001378074.1
p.P699S
c.2095C>T
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