Varaico: Literature-Extracted Genetic Variants

Gene:S100A11
Variant:p.I14N

S100A11

37 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 10–54UCSCS-100/ICaBP type calcium binding domain
EF-hand_1aa 59–87UCSCEF hand domain

Gene Aliases

HGNC Name

S100 calcium binding protein A11

HGNC Alias Symbol

S100C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005620.2
p.I14N
c.41T>A
Surrounding Variants
1 paper
NM_005620.2
p.C13S
c.38G>C
2 papers
NM_005620.2
p.C13S
c.37T>A
1 paper
NM_005620.2
p.E11K
c.31G>A
1 paper
NM_005620.2
p.P7L
c.20C>T
1 paper
NM_005620.2
p.P7R
c.20C>G
1 paper
NM_005620.2
p.Q22P
c.65A>C
2 papers
NM_005620.2
p.S5F
c.14C>T
1 paper
NM_005620.2
p.A25T
c.73G>A
1 paper
NM_005620.2
p.A25V
c.74C>T
1 paper
NM_005620.2
p.A25G
c.74C>G
1 paper
NM_005620.2
p.G26R
c.76G>C
1 paper
NM_005620.2
p.Y30N
c.88T>A
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