Varaico: Literature-Extracted Genetic Variants

Gene:IBSP
Variant:p.G159E

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.G159E
c.476G>A
Surrounding Variants
1 paper
NM_004967.4
p.N162N
c.486C>T
1 paper
NM_004967.4
p.D150A
c.449A>C
1 paper
NM_004967.4
p.N172fs
c.514_515fs
1 paper
NM_004967.4
p.N172N
c.516C>T
1 paper
NM_004967.4
p.T179_E187del9
c.535_560del27
1 paper
NM_004967.4
p.E185K
c.553G>A
1 paper
NM_004967.4
p.N190Y
c.568A>T
5 papers
NM_004967.4
p.G195E
c.584G>A
1 paper
NM_004967.4
p.G201E
c.602G>A
3 papers
NM_004967.4
p.D213G
c.638A>G
4 papers
NM_004967.4
p.R219G
c.655A>G
1 paper
NM_004967.4
p.T246S
c.736A>T
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