Varaico: Literature-Extracted Genetic Variants

Gene:IBSP
Variant:p.I130V

IBSP

91 papers

RefSeq Summary

The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associat...

Pfam Domains

BSP_IIaa 17–314UCSCBone sialoprotein II (BSP-II)

Gene Aliases

HGNC Name

integrin binding sialoprotein

HGNC Alias Symbols

BSP; SP-II; BSP-II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004967.4
p.I130V
c.388A>G
Surrounding Variants
1 paper
NM_004967.4
p.Q131E
c.391C>G
1 paper
NM_004967.4
p.K135M
c.404A>T
1 paper
NM_004967.4
p.G123G
c.369G>C
1 paper
NM_004967.4
p.T122A
c.364A>G
1 paper
NM_004967.4
p.T119M
c.356C>T
1 paper
NM_004967.4
p.T119A
c.355A>G
1 paper
NM_004967.4
p.S94L
c.281C>T
2 papers
NM_004967.4
p.N90Y
c.268A>T
1 paper
NM_004967.4
p.D150A
c.449A>C
1 paper
NM_004967.4
p.G159E
c.476G>A
1 paper
NM_004967.4
p.N162N
c.486C>T
1 paper
NM_004967.4
p.N172fs
c.514_515fs
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