Varaico: Literature-Extracted Genetic Variants

Gene:CAPNS1
Variant:p.A200G

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.A200G
c.599C>G
Surrounding Variants
1 paper
NM_001749.4
p.E199K
c.595G>A
1 paper
NM_001749.4
p.S186P
c.556T>C
1 paper
NM_001749.4
p.R185Q
c.554G>A
1 paper
NM_001749.4
p.R185*
c.553C>T
1 paper
NM_001749.4
p.Y178N
c.532T>A
1 paper
NM_001749.4
p.L205Q
c.614T>A
2 papers
NM_001749.4
p.L209F
c.625C>T
1 paper
NM_001749.4
p.R215L
c.644G>T
1 paper
NM_001749.4
p.G222R
c.664G>A
1 paper
NM_001749.4
p.G222R
c.664G>C
1 paper
NM_001749.4
p.G160D
c.479G>A
1 paper
NM_001749.4
p.D152_S153Splc
c.457-3C>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."