Varaico: Literature-Extracted Genetic Variants

Gene:S100A8
Variant:p.K49R

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
2 papers
NM_002964.5
p.K49R
c.146A>G
Surrounding Variants
1 paper
NM_002964.5
p.L58F
c.174G>C
1 paper
NM_002964.5
p.D59E
c.177T>G
1 paper
NM_002964.5
p.D59E
c.177T>A
1 paper
NM_002964.5
p.D59delFs
c.176_177delAT
1 paper
NM_002964.5
p.E70G
c.209A>G
1 paper
NM_002964.5
p.I73_L74del1
c.219_221delAGA
1 paper
NM_002964.5
p.K77M
c.230A>T
1 paper
NM_002964.5
p.V80M
c.238G>A
1 paper
NM_002964.5
p.V80A
c.239T>C
1 paper
NM_002964.5
p.V80_A81insFs
c.240_241ins4
1 paper
NM_002964.5
p.A82P
c.244G>C
1 paper
NM_002964.5
p.A82T
c.244G>A
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