Varaico: Literature-Extracted Genetic Variants

Gene:IBSP
Variant:p.L5I

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.L5I
c.13T>A
Surrounding Variants
1 paper
NM_004967.4
p.I10T
c.29T>C
1 paper
NM_004967.4
p.A14V
c.41C>T
1 paper
NM_004967.4
p.A14A
c.42C>T
1 paper
NM_004967.4
p.S18_M19Splc
c.55-1G>C
1 paper
NM_004967.4
p.N21K
c.63T>A
1 paper
NM_004967.4
p.R25T
c.74G>C
1 paper
NM_004967.4
p.S31insFs
c.91_92insC
1 paper
NM_004967.4
p.E32A
c.95A>C
1 paper
NM_004967.4
p.Y39F
c.116A>T
1 paper
NM_004967.4
p.V60delFs
c.179delT
1 paper
NM_004967.4
p.V60V
c.180T>A
2 papers
NM_004967.4
p.S64I
c.191G>T
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