Varaico: Literature-Extracted Genetic Variants

Gene:S100A7
Variant:p.G92R

S100A7

48 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 6–47UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A7

HGNC Previous Symbol

PSOR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002963.4
p.G92R
c.274G>A
Surrounding Variants
1 paper
NM_002963.4
p.G92R
c.274G>C
1 paper
NM_002963.4
p.G92E
c.275G>A
1 paper
NM_002963.4
p.A94A
c.282G>A
1 paper
NM_002963.4
p.S97insFs
c.291dupC
2 papers
NM_002963.4
p.S100G
c.298A>G
1 paper
NM_002963.4
p.T84A
c.250A>G
1 paper
NM_002963.4
p.Q101L
c.302A>T
1 paper
NM_002963.4
p.D81Y
c.241G>T
1 paper
NM_002963.4
p.D71E
c.213T>G
1 paper
NM_002963.4
p.D71E
c.213T>A
1 paper
NM_002963.4
p.L55P
c.164T>C
1 paper
NM_002963.4
p.K50R
c.149A>G
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