Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.D244H

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
3 papers
NM_001231.5
p.D244H
c.730G>C
Surrounding Variants
26 papers
NM_001231.5
p.D244G
c.731A>G
1 paper
NM_001231.5
p.D244E
c.732C>A
1 paper
NM_001231.5
p.D244E
c.732C>G
1 paper
NM_001231.5
p.P243A
c.727C>G
1 paper
NM_001231.5
p.I242M
c.726C>G
1 paper
NM_001231.5
p.P239L
c.716C>T
1 paper
NM_001231.5
p.E249K
c.745G>A
1 paper
NM_001231.5
p.N254S
c.761A>G
1 paper
NM_001231.5
p.E233V
c.698A>T
3 papers
NM_001231.5
p.V256M
c.766G>A
1 paper
NM_001231.5
p.V256V
c.768G>A
1 paper
NM_001231.5
p.E257K
c.769G>A
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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."