Varaico: Literature-Extracted Genetic Variants

Gene:S100G
Variant:p.K75I

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.K75I
c.224A>T
Surrounding Variants
1 paper
NM_004057.3
p.K75Q
c.223A>C
1 paper
NM_004057.3
p.K75E
c.223A>G
2 papers
NM_004057.3
p.V74V
c.222A>T
1 paper
NM_004057.3
p.V74L
c.220G>C
1 paper
NM_004057.3
p.V74L
c.220G>T
1 paper
NM_004057.3
p.I77V
c.229A>G
3 papers
NM_004057.3
p.V72I
c.214G>A
1 paper
NM_004057.3
p.V65A
c.194T>C
5 papers
NM_004057.3
p.E64*
c.190G>T
1 paper
NM_004057.3
p.G46D
c.137G>A
1 paper
NM_004057.3
p.K45E
c.133A>G
1 paper
NM_004057.3
p.P41L
c.122C>T
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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."