Varaico: Literature-Extracted Genetic Variants

Gene:S100A3
Variant:p.L62V

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
Selected Variant
1 paper
NM_002960.2
p.L62V
c.184C>G
Surrounding Variants
1 paper
NM_002960.2
p.V61delFs
c.181_182delAC
1 paper
NM_002960.2
p.T64A
c.190A>G
1 paper
NM_002960.2
p.C68R
c.202T>C
1 paper
NM_002960.2
p.V70fs
c.208_209fs
4 papers
NM_002960.2
p.V70delFs
c.208delC
4 papers
NM_002960.2
p.V70fs
c.208_209fs
1 paper
NM_002960.2
p.R51L
c.152G>T
1 paper
NM_002960.2
p.R51Q
c.152G>A
3 papers
NM_002960.2
p.R77C
c.229C>T
1 paper
NM_002960.2
p.R77L
c.230G>T
1 paper
NM_002960.2
p.L84F
c.250C>T
1 paper
NM_002960.2
p.C86S
c.256T>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."