Varaico: Literature-Extracted Genetic Variants

Gene:CAPNS1
Variant:p.G37delins

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
2 papers
NM_001749.4
p.G37delins
c.111delinsGGGC
Surrounding Variants
1 paper
NM_001749.4
p.G46_G48ins1
c.138_143dup6
1 paper
NM_001749.4
p.G38del1
c.112_114delGGC
1 paper
NM_001749.4
p.G40R
c.118G>C
2 papers
NM_001749.4
p.G43S
c.127G>A
1 paper
NM_001749.4
p.G46fs
c.136_137fs
1 paper
NM_001749.4
p.G48insFs
c.143dupG
1 paper
NM_001749.4
p.G47G
c.141C>T
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
1 paper
NM_001749.4
p.G49R
c.145G>C
1 paper
NM_001749.4
p.G26R
c.76G>C
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