Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1

CAPN1

222 papers

RefSeq Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ub...

Pfam Domains

Peptidase_C2aa 56–352UCSCCalpain family cysteine protease
Calpain_IIIaa 371–514UCSCCalpain large subunit, domain III
EF-hand_8aa 557–617UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 1

HGNC Alias Symbols

muCANP; CANP; CANPL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 258 variants
16 papers
NM_005186.4
p.E535_Q536Splc
c.1605+5G>A
14 papers
NM_005186.4
p.W392*
c.1176G>A
13 papers
NM_005186.4
p.D253_I254Splc
c.759+1G>A
12 papers
NM_005186.4
p.R133*
c.397C>T
11 papers
NM_005186.4
p.R295P
c.884G>C
11 papers
NM_005186.4
p.W392*
c.1175G>A
11 papers
NM_005186.4
p.R512C
c.1534C>T
10 papers
NM_005186.4
p.G74D
c.221G>A
10 papers
NM_005186.4
p.P136delFs
c.406delC
10 papers
NM_005186.4
p.S206_G207delFs
c.618_619delAG
10 papers
NM_005186.4
p.T304M
c.911C>T
10 papers
NM_005186.4
p.G332R
c.994G>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."