Varaico: Literature-Extracted Genetic Variants

Gene:S100A7

S100A7

48 papers

RefSeq Summary

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of ...

Pfam Domains

S_100aa 6–47UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A7

HGNC Previous Symbol

PSOR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
8 papers
NM_002963.4
p.E28D
c.84G>T
8 papers
NM_002963.4
p.E28D
c.84G>C
2 papers
NM_002963.4
p.S100G
c.298A>G
1 paper
NM_002963.4
p.N3insFs
c.7dupA
1 paper
NM_002963.4
p.R8K
c.23G>A
1 paper
NM_002963.4
p.G12C
c.34G>T
1 paper
NM_002963.4
p.H18L
c.53A>T
1 paper
NM_002963.4
p.K19*
c.55A>T
1 paper
NM_002963.4
p.K19Q
c.55A>C
1 paper
NM_002963.4
p.D24H
c.70G>C
1 paper
NM_002963.4
p.M36I
c.108G>T
1 paper
NM_002963.4
p.M36I
c.108G>C
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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."