Varaico: Literature-Extracted Genetic Variants

Gene:S100A12
Variant:p.M1T

S100A12

91 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

Gene Aliases

HGNC Name

S100 calcium binding protein A12

HGNC Alias Symbols

p6; MRP6; CGRP; CAAF1; CAGC; ENRAGE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005621.2
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_005621.2
p.M1delFs
c.2delA
1 paper
NM_005621.2
p.L4L
c.12T>C
1 paper
NM_005621.2
p.E5K
c.13G>A
1 paper
NM_005621.2
p.H7Y
c.19C>T
1 paper
NM_005621.2
p.L8insFs
c.22_23ins4
1 paper
NM_005621.2
p.G10E
c.29G>A
1 paper
NM_005621.2
p.I11T
c.32T>C
1 paper
NM_005621.2
p.I11_V12insFs
c.33_34insC
1 paper
NM_005621.2
p.R21Q
c.62G>A
1 paper
NM_005621.2
p.K22R
c.65A>G
1 paper
NM_005621.2
p.F25I
c.73T>A
1 paper
NM_005621.2
p.F25fs
c.73_74fs
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