Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.R229C

CAPN12

84 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 46–339UCSCCalpain family cysteine protease
Calpain_IIIaa 359–520UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144691.4
p.R229C
c.685C>T
Surrounding Variants
1 paper
NM_144691.4
p.K234M
c.701A>T
1 paper
NM_144691.4
p.E235*
c.703G>T
1 paper
NM_144691.4
p.N220fs
c.658_659fs
3 papers
NM_144691.4
p.N220delFs
c.658_659delTT
1 paper
NM_144691.4
p.N220fs
c.658_659fs
2 papers
NM_144691.4
p.V211M
c.631G>A
1 paper
NM_144691.4
p.G210A
c.629G>C
2 papers
NM_144691.4
p.R196W
c.586C>T
1 paper
NM_144691.4
p.E193G
c.578A>G
2 papers
NM_144691.4
p.G190S
c.568G>A
1 paper
NM_144691.4
p.L243_S244Splc
c.730-22C>T
2 papers
NM_144691.4
p.E253D
c.759G>T
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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."