Varaico: Literature-Extracted Genetic Variants

Gene:SPP1
Variant:p.H96Q

SPP1

373 papers

RefSeq Summary

The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclas...

Pfam Domains

Osteopontinaa 23–273UCSCOsteopontin

Gene Aliases

HGNC Name

secreted phosphoprotein 1

HGNC Previous Symbol

BNSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040058.2
p.H96Q
c.288T>A
Surrounding Variants
1 paper
NM_001040058.2
p.D98E
c.294C>A
1 paper
NM_001040058.2
p.D98E
c.294C>G
7 papers
NM_001040058.2
p.D94D
c.282T>C
1 paper
NM_001040058.2
p.D94G
c.281A>G
1 paper
NM_001251829.2
p.D52_D53insFs
c.156_157insGG
1 paper
NM_001040058.2
p.Q100*
c.298C>T
1 paper
NM_001040058.2
p.D101E
c.303C>A
1 paper
NM_001040058.2
p.D101E
c.303C>G
1 paper
NM_001040058.2
p.D90N
c.268G>A
1 paper
NM_001040058.2
p.D89D
c.267T>C
1 paper
NM_001040058.2
p.S105P
c.313T>C
1 paper
NM_001040058.2
p.S108C
c.323C>G
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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."