Varaico: Literature-Extracted Genetic Variants

Gene:S100A6

S100A6

60 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 5–43UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A6

HGNC Previous Symbol

CACY

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
2 papers
NM_014624.4
p.I53N
c.158T>A
1 paper
NM_014624.4
p.M1V
c.1A>G
1 paper
NM_014624.4
p.C3R
c.7T>C
1 paper
NM_014624.4
p.C3fs
c.7_8fs
1 paper
NM_014624.4
p.G10R
c.28G>C
1 paper
NM_014624.4
p.G21S
c.61G>A
1 paper
NM_014624.4
p.R22T
c.65G>C
1 paper
NM_014624.4
p.D25N
c.73G>A
1 paper
NM_014624.4
p.H27D
c.79C>G
1 paper
NM_014624.4
p.H27R
c.80A>G
1 paper
NM_014624.4
p.S30delFs
c.89_90delGC
1 paper
NM_014624.4
p.E33K
c.97G>A
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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."