Varaico: Literature-Extracted Genetic Variants

Gene:S100A5
Variant:p.S73L

S100A5

16 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 A5

HGNC Previous Symbol

S100D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394232.1
p.S73L
c.218C>T
Surrounding Variants
1 paper
NM_001394232.1
p.Y72C
c.215A>G
3 papers
NM_001394232.1
p.D54G
c.161A>G
1 paper
NM_001394232.1
p.D53D
c.159T>C
1 paper
NM_001394232.1
p.K35K
c.105G>A
1 paper
NM_001394232.1
p.G24delFs
c.71delC
2 papers
NM_001394232.1
p.P4S
c.10C>T
1 paper
NM_001394232.1
p.M1V
c.1A>G
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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."