Varaico: Literature-Extracted Genetic Variants

Gene:S100G
Variant:p.M1T

S100G

30 papers

RefSeq Summary

This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C...

Pfam Domains

S_100aa 7–47UCSCS-100/ICaBP type calcium binding domain
EF-hand_1aa 49–77UCSCEF hand domain

Gene Aliases

HGNC Name

S100 calcium binding protein G

HGNC Previous Symbol

CALB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004057.3
p.M1T
c.2T>C
Surrounding Variants
2 papers
NM_004057.3
p.K5M
c.14A>T
1 paper
NM_004057.3
p.L10V
c.28C>G
1 paper
NM_004057.3
p.R12S
c.36G>C
1 paper
NM_004057.3
p.R12S
c.36G>T
1 paper
NM_004057.3
p.F14Y
c.41T>A
1 paper
NM_004057.3
p.Y17F
c.50A>T
1 paper
NM_004057.3
p.E21Q
c.61G>C
1 paper
NM_004057.3
p.D23N
c.67G>A
1 paper
NM_004057.3
p.K33N
c.99G>C
1 paper
NM_004057.3
p.K33N
c.99G>T
1 paper
NM_004057.3
p.P41L
c.122C>T
1 paper
NM_004057.3
p.K45E
c.133A>G
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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."