Varaico: Literature-Extracted Genetic Variants

Gene:S100A6
Variant:p.Q71*

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
Selected Variant
1 paper
NM_014624.4
p.Q71*
c.211C>T
Surrounding Variants
1 paper
NM_014624.4
p.N69S
c.206A>G
1 paper
NM_014624.4
p.E67K
c.199G>A
1 paper
NM_014624.4
p.G78R
c.232G>C
1 paper
NM_014624.4
p.G78R
c.232G>A
1 paper
NM_014624.4
p.K64E
c.190A>G
1 paper
NM_014624.4
p.N63I
c.188A>T
1 paper
NM_014624.4
p.R62W
c.184C>T
1 paper
NM_014624.4
p.D61H
c.181G>C
1 paper
NM_014624.4
p.A81V
c.242C>T
1 paper
NM_014624.4
p.E58V
c.173A>T
1 paper
NM_014624.4
p.E86G
c.257A>G
1 paper
NM_014624.4
p.A87fs
c.259_260fs
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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."