Varaico: Literature-Extracted Genetic Variants

Gene:S100A3

S100A3

55 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 5–49UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A3

HGNC Previous Symbol

S100E

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
7 papers
NM_002960.2
p.S100A
c.298T>G
7 papers
NM_002960.2
p.S100P
c.298T>C
4 papers
NM_002960.2
p.R3K
c.8G>A
4 papers
NM_002960.2
p.V70delFs
c.208delC
4 papers
NM_002960.2
p.V70fs
c.208_209fs
3 papers
NM_002960.2
p.R22C
c.64C>T
3 papers
NM_002960.2
p.R77C
c.229C>T
2 papers
NM_002960.2
p.Y27*
c.81C>A
1 paper
NM_002960.2
p.L5Q
c.14T>A
1 paper
NM_002960.2
p.C23S
c.68G>C
1 paper
NM_002960.2
p.R51L
c.152G>T
1 paper
NM_002960.2
p.R51Q
c.152G>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."