Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.E93_L94Splc

CASQ1

101 papers

RefSeq Summary

This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscl...

Pfam Domains

Calsequestrinaa 11–396UCSCCalsequestrin

Gene Aliases

HGNC Name

calsequestrin 1

HGNC Alias Symbols

PDIB1; CSQ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001231.5
p.E93_L94Splc
c.280-1G>C
Surrounding Variants
14 papers
NM_001231.5
p.G103D
c.308G>A
1 paper
NM_001231.5
p.G105S
c.313G>A
1 paper
NM_001231.5
p.M129_Y130insFs
c.387_388insAT
1 paper
NM_001231.5
p.E136D
c.408A>C
2 papers
NM_001231.5
p.Y140F
c.419A>T
1 paper
NM_001231.5
p.G142G
c.426C>T
1 paper
NM_001231.5
p.T148S
c.442A>T
1 paper
NM_001231.5
p.T148S
c.443C>G
1 paper
NM_001231.5
p.V150L
c.448G>C
1 paper
NM_001231.5
p.V150L
c.448G>T
1 paper
NM_001231.5
p.E151Q
c.451G>C
1 paper
NM_001231.5
p.L92V
c.274C>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."