Varaico: Literature-Extracted Genetic Variants

Gene:S100B
Variant:p.M8K

S100B

51 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 4–48UCSCS-100/ICaBP type calcium binding domain
EF-hand_1aa 53–81UCSCEF hand domain

Gene Aliases

HGNC Name

S100 calcium binding protein B

HGNC Alias Symbol

S100beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006272.3
p.M8K
c.23T>A
Surrounding Variants
1 paper
NM_006272.3
p.K6R
c.17A>G
1 paper
NM_006272.3
p.D13V
c.38A>T
1 paper
NM_006272.3
p.K25N
c.75G>T
1 paper
NM_006272.3
p.K25N
c.75G>C
1 paper
NM_006272.3
p.K30N
c.90A>T
1 paper
NM_006272.3
p.K30N
c.90A>C
1 paper
NM_006272.3
p.E32K
c.94G>A
1 paper
NM_006272.3
p.I37L
c.109A>C
1 paper
NM_006272.3
p.N38D
c.112A>G
1 paper
NM_006272.3
p.L41F
c.121C>T
1 paper
NM_006272.3
p.E46_E47Splc
c.139-825C>A
1 paper
NM_006272.3
p.G67S
c.199G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."