Varaico: Literature-Extracted Genetic Variants

Gene:S100A9
Variant:p.K50T

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
2 papers
NM_002965.4
p.K50T
c.149A>C
Surrounding Variants
4 papers
NM_002965.4
p.K50*
c.148A>T
1 paper
NM_002965.4
p.K50_K51Splc
c.150+1G>A
1 paper
NM_002965.4
p.K50_K51Splc
c.150+1G>T
1 paper
NM_002965.4
p.N47_K50del4
c.139_149del12
1 paper
NM_002965.4
p.Q46R
c.137A>G
1 paper
NM_002965.4
p.K43E
c.127A>G
1 paper
NM_002965.4
p.R42G
c.124C>G
1 paper
NM_002965.4
p.V41E
c.122T>A
1 paper
NM_002965.4
p.F37L
c.111C>A
1 paper
NM_002965.4
p.F37L
c.111C>G
1 paper
NM_002965.4
p.F37L
c.109T>C
1 paper
NM_002965.4
p.E36E
c.108A>G
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