Varaico: Literature-Extracted Genetic Variants

Gene:IBSP
Variant:p.Y271Y

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.Y271Y
c.813C>T
Surrounding Variants
4 papers
NM_004967.4
p.E270D
c.810A>C
4 papers
NM_004967.4
p.E270D
c.810A>T
4 papers
NM_004967.4
p.A268V
c.803C>T
2 papers
NM_004967.4
p.A268T
c.802G>A
1 paper
NM_004967.4
p.G267G
c.801C>T
2 papers
NM_004967.4
p.G267D
c.800G>A
1 paper
NM_004967.4
p.E264K
c.790G>A
1 paper
NM_004967.4
p.E260K
c.778G>A
1 paper
NM_004967.4
p.R286L
c.857G>T
1 paper
NM_004967.4
p.D288N
c.862G>A
2 papers
NM_004967.4
p.R291*
c.871C>T
1 paper
NM_004967.4
p.T246S
c.737C>G
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