Varaico: Literature-Extracted Genetic Variants

Gene:S100A9
Variant:p.L82L

S100A9

308 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 8–52UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A9

HGNC Previous Symbols

CAGB; CFAG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002965.4
p.L82L
c.246G>A
Surrounding Variants
1 paper
NM_002965.4
p.L82R
c.245T>G
1 paper
NM_002965.4
p.M81_L82insFs
c.243_244insA
1 paper
NM_002965.4
p.I80T
c.239T>C
1 paper
NM_002965.4
p.L86_T87insA
c.256_260ins3
1 paper
NM_002965.4
p.E77A
c.230A>C
2 papers
NM_002965.4
p.E77G
c.230A>G
1 paper
NM_002965.4
p.W88*
c.263G>A
1 paper
NM_002965.4
p.E77*
c.229G>T
1 paper
NM_002965.4
p.W88*
c.264G>A
1 paper
NM_002965.4
p.A89A
c.267C>T
1 paper
NM_002965.4
p.S75_F76del2
c.223_227del6
1 paper
NM_002965.4
p.H91P
c.272A>C
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