Varaico: Literature-Extracted Genetic Variants

Gene:S100A1
Variant:p.E23K

S100A1

32 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
EF-hand_1aa 54–82UCSCEF hand domain

Gene Aliases

HGNC Name

S100 calcium binding protein A1

HGNC Alias Symbol

S100-alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006271.2
p.E23K
c.67G>A
Surrounding Variants
1 paper
NM_006271.2
p.L29M
c.85C>A
1 paper
NM_006271.2
p.L29L
c.87G>C
1 paper
NM_006271.2
p.H17insFs
c.49dupC
1 paper
NM_006271.2
p.L38M
c.112C>A
1 paper
NM_006271.2
p.T7S
c.19A>T
1 paper
NM_006271.2
p.Q49K
c.145C>A
1 paper
NM_006271.2
p.D53G
c.158A>G
1 paper
NM_006271.2
p.V55L
c.163G>C
1 paper
NM_006271.2
p.V55L
c.163G>T
1 paper
NM_006271.2
p.D56Y
c.166G>T
1 paper
NM_006271.2
p.V58A
c.173T>C
2 papers
NM_006271.2
p.E64K
c.190G>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."