Varaico: Literature-Extracted Genetic Variants

Gene:S100A11
Variant:p.E79A

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.E79A
c.236A>C
Surrounding Variants
2 papers
NM_005620.2
p.F77Y
c.230T>A
1 paper
NM_005620.2
p.I84M
c.252T>G
1 paper
NM_005620.2
p.C91S
c.271T>A
1 paper
NM_005620.2
p.C91S
c.272G>C
2 papers
NM_005620.2
p.L67M
c.199C>A
1 paper
NM_005620.2
p.S94A
c.280T>G
1 paper
NM_005620.2
p.R62H
c.185G>A
1 paper
NM_005620.2
p.R104W
c.310C>T
1 paper
NM_005620.2
p.R104Q
c.311G>A
1 paper
NM_005620.2
p.K52_N53Splc
c.156+1G>A
1 paper
NM_005620.2
p.L40P
c.119T>C
1 paper
NM_005620.2
p.T37A
c.109A>G
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