Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.G64delFs

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.G64delFs
c.191delC
Surrounding Variants
1 paper
NM_144691.4
p.P65L
c.194C>T
1 paper
NM_144691.4
p.G59A
c.176G>C
1 paper
NM_144691.4
p.P55fs
c.163_164fs
1 paper
NM_144691.4
p.P55delFs
c.163delG
1 paper
NM_144691.4
p.R36R
c.108G>T
1 paper
NM_144691.4
p.R36Q
c.107G>A
1 paper
NM_144691.4
p.R28R
c.84G>A
1 paper
NM_144691.4
p.R28L
c.83G>T
1 paper
NM_144691.4
p.R28W
c.82C>T
1 paper
NM_144691.4
p.G20E
c.59G>A
1 paper
NM_144691.4
p.V19I
c.55G>A
1 paper
NM_144691.4
p.D14fs
c.40_41fs
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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."