Varaico: Literature-Extracted Genetic Variants

Gene:CAPNS2

CAPNS2

21 papers

Pfam Domains

EF-hand_8aa 91–151UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain small subunit 2

HGNC Alias Symbols

MGC12536; MGC14804

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
1 paper
NM_032330.3
p.M1V
c.1A>G
1 paper
NM_032330.3
p.M1T
c.2T>C
1 paper
NM_032330.3
p.L15V
c.43C>G
1 paper
NM_032330.3
p.E17Q
c.49G>C
1 paper
NM_032330.3
p.G32E
c.95G>A
1 paper
NM_032330.3
p.G34R
c.100G>A
1 paper
NM_032330.3
p.G34R
c.100G>C
1 paper
NM_032330.3
p.R79S
c.237G>C
1 paper
NM_032330.3
p.R79S
c.237G>T
1 paper
NM_032330.3
p.R80*
c.238C>T
1 paper
NM_032330.3
p.Q87*
c.259C>T
1 paper
NM_032330.3
p.D99E
c.297T>A
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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."