Varaico: Literature-Extracted Genetic Variants

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

Gene Aliases

HGNC Name

S100 calcium binding protein A8

HGNC Previous Symbols

CAGA; CFAG

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

3 papers

NM_002964.5

p.C42S

c.124T>A

3 papers

NM_002964.5

p.C42S

c.125G>C

2 papers

NM_002964.5

p.E4D

c.12G>C

2 papers

NM_002964.5

p.K49R

c.146A>G

1 paper

NM_002964.5

p.M1ins1

c.2_3insAGA

1 paper

NM_002964.5

p.M1T

c.2T>C

1 paper

NM_002964.5

p.L2M

c.4T>A

1 paper

NM_002964.5

p.T3N

c.8C>A

1 paper

NM_002964.5

p.L5delFs

c.14_15delCA

1 paper

NM_002964.5

p.E6E

c.18G>A

1 paper

NM_002964.5

p.A8A

c.24C>T

1 paper

NM_002964.5

p.A8delFs

c.23_24delGG