Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.L37I

CASQ2

471 papers

RefSeq Summary

The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle ce...

Pfam Domains

Calsequestrinaa 2–382UCSCCalsequestrin

Gene Aliases

HGNC Name

calsequestrin 2

HGNC Alias Symbol

PDIB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001232.4
p.L37I
c.109C>A
Surrounding Variants
1 paper
NM_001232.4
p.E39*
c.115G>T
2 papers
NM_001232.4
p.E39K
c.115G>A
1 paper
NM_001232.4
p.E39A
c.116A>C
2 papers
NM_001232.4
p.V34G
c.101T>G
1 paper
NM_001232.4
p.V34A
c.101T>C
1 paper
NM_001232.4
p.V34insFs
c.100_101insC
3 papers
NM_001232.4
p.K40E
c.118A>G
90 papers
NM_001232.4
p.R33Q
c.98G>A
33 papers
NM_001232.4
p.R33*
c.97C>T
1 paper
NM_001232.4
p.D32A
c.95A>C
1 paper
NM_001232.4
p.D32N
c.94G>A
1 paper
NM_001232.4
p.D29A
c.86A>C
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."