Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.D155_V156Splc

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
1 paper
NM_001231.5
p.D155_V156Splc
c.466-1G>A
Surrounding Variants
1 paper
NM_001231.5
p.I164M
c.492T>G
1 paper
NM_001231.5
p.E169K
c.505G>A
1 paper
NM_001231.5
p.Q171*
c.511C>T
1 paper
NM_001231.5
p.D178N
c.532G>A
1 paper
NM_001231.5
p.D178G
c.533A>G
1 paper
NM_001231.5
p.I183T
c.548T>C
1 paper
NM_001231.5
p.Y185C
c.554A>G
1 paper
NM_001231.5
p.F186Y
c.557T>A
1 paper
NM_001231.5
p.K189R
c.566A>G
2 papers
NM_001231.5
p.H193Splc
c.578-5C>G
1 paper
NM_001231.5
p.A196V
c.587C>T
1 paper
NM_001231.5
p.E233V
c.698A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."