Varaico: Literature-Extracted Genetic Variants

Gene:S100A8
Variant:p.C42S

S100A8

99 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
S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain
S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A8

HGNC Previous Symbols

CAGA; CFAG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002964.5
p.C42S
c.124T>A
Surrounding Variants
3 papers
NM_002964.5
p.C42S
c.125G>C
1 paper
NM_002964.5
p.E41A
c.122A>C
1 paper
NM_002964.5
p.C42_Q44del3
c.124_131del9
1 paper
NM_002964.5
p.L37F
c.111G>T
1 paper
NM_002964.5
p.L37F
c.111G>C
1 paper
NM_002964.5
p.L34M
c.100C>A
1 paper
NM_002964.5
p.R31R
c.93G>A
1 paper
NM_002964.5
p.K23_G24del2
c.67_71del6
1 paper
NM_002964.5
p.N25D
c.73A>G
1 paper
NM_002964.5
p.L21L
c.61C>T
1 paper
NM_002964.5
p.Y16S
c.47A>C
1 paper
NM_002964.5
p.D14_V15del2
c.40_44del6
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