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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IBSP

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 54 variants

5 papers

chr4:87811540 G>A

NM_004967.4

p.G195E

c.584G>A

BSP_II

Exome: 30.7% (AC=448423, hom=71834)Genome: 24.3% (AC=36912, hom=5720)91 overlapping SVs

4 papers

chr4:87811611 A>G

NM_004967.4

p.R219G

c.655A>G

BSP_II

Exome: 22.0% (AC=322026, hom=36430)Genome: 25.5% (AC=38746, hom=5463)91 overlapping SVs

4 papers

chr4:87811759 C>T

NM_004967.4

p.A268V

c.803C>T

BSP_II

Exome: 16.4% (AC=239591, hom=21011)Genome: 18.5% (AC=28106, hom=2862)91 overlapping SVs

4 papers

chr4:87811766 A>C

NM_004967.4

p.E270D

c.810A>C

BSP_II

exact variant not in gnomAD91 overlapping SVs

4 papers

chr4:87811766 A>T

NM_004967.4

p.E270D

c.810A>T

BSP_II

Exome: 30.7% (AC=449234, hom=72133)Genome: 24.2% (AC=36845, hom=5737)91 overlapping SVs

3 papers

chr4:87811594 A>G

NM_004967.4

p.D213G

c.638A>G

BSP_II

Exome: 75.5% (AC=1102780, hom=417948)Genome: 78.7% (AC=119318, hom=47403)91 overlapping SVs

2 papers

chr4:87806129 G>T

NM_004967.4

p.S64I

c.191G>T

BSP_II

exact variant not in gnomAD93 overlapping SVs

2 papers

chr4:87810627 A>T

NM_004967.4

p.N90Y

c.268A>T

BSP_II

exact variant not in gnomAD91 overlapping SVs

2 papers

chr4:87811756 G>A

NM_004967.4

p.G267D

c.800G>A

BSP_II

exact variant not in gnomAD91 overlapping SVs

2 papers

chr4:87811758 G>A

NM_004967.4

p.A268T

c.802G>A

BSP_II

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)91 overlapping SVs

2 papers

chr4:87811827 C>T

NM_004967.4

p.R291*

c.871C>T

BSP_II

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=4, hom=0)91 overlapping SVs

2 papers

chr4:87811896 T>C

NM_004967.4

p.Y314H

c.940T>C

BSP_II

Exome: 0.0% (AC=233, hom=2)Genome: 0.0% (AC=18, hom=0)91 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."