Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.D44N

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
14 papers
NM_001231.5
p.D44N
c.130G>A
Surrounding Variants
1 paper
NM_001231.5
p.D47G
c.140A>G
9 papers
NM_001231.5
p.N56Y
c.166A>T
1 paper
NM_001231.5
p.N59D
c.175A>G
1 paper
NM_001231.5
p.L67P
c.200T>C
1 paper
NM_001231.5
p.L20R
c.59T>G
1 paper
NM_001231.5
p.R16Q
c.47G>A
1 paper
NM_001231.5
p.H72Q
c.216T>A
1 paper
NM_001231.5
p.H72Q
c.216T>G
1 paper
NM_001231.5
p.A11T
c.31G>A
1 paper
NM_001231.5
p.R10I
c.29G>T
1 paper
NM_001231.5
p.T4fs
c.10_11fs
1 paper
NM_001231.5
p.F85S
c.254T>C
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