Varaico: Literature-Extracted Genetic Variants

Gene:CAPNS1
Variant:p.V4delFs

CAPNS1

91 papers

RefSeq Summary

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, compris...

Gene Aliases

HGNC Name

calpain small subunit 1

HGNC Previous Symbol

CAPN4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001749.4
p.V4delFs
c.10delG
Surrounding Variants
1 paper
NM_001749.4
p.V4D
c.11T>A
1 paper
NM_001749.4
p.M1I
c.3G>A
1 paper
NM_001749.4
p.M1R
c.2T>G
1 paper
NM_001749.4
p.G10del1
c.28_29delGGC
1 paper
NM_001749.4
p.G12S
c.34G>A
1 paper
NM_001749.4
p.G20D
c.59G>A
1 paper
NM_001749.4
p.G26R
c.76G>C
1 paper
NM_001749.4
p.N27K
c.81T>A
1 paper
NM_001749.4
p.N27K
c.81T>G
1 paper
NM_001749.4
p.V28_G30del3
c.82_89del9
2 papers
NM_001749.4
p.G37delins
c.111delinsGGGC
1 paper
NM_001749.4
p.G46_G48ins1
c.138_143dup6
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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."