Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.I385T

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
12 papers
NM_001231.5
p.I385T
c.1154T>C
Surrounding Variants
1 paper
NM_001231.5
p.G383S
c.1147G>A
2 papers
NM_001231.5
p.G383fs
c.1147_1148fs
2 papers
NM_001231.5
p.G383delFs
c.1148delG
1 paper
NM_001231.5
p.D391D
c.1173C>T
1 paper
NM_001231.5
p.D392D
c.1176T>C
1 paper
NM_001231.5
p.W376L
c.1127G>T
1 paper
NM_001231.5
p.D366N
c.1096G>A
1 paper
NM_001231.5
p.E364K
c.1090G>A
1 paper
NM_001231.5
p.E360K
c.1078G>A
1 paper
NM_001231.5
p.A354A
c.1062G>A
1 paper
NM_001231.5
p.A354V
c.1061C>T
1 paper
NM_001231.5
p.G347*
c.1039G>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."