Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.C287R

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
2 papers
NM_144691.4
p.C287R
c.859T>C
Surrounding Variants
1 paper
NM_144691.4
p.F270F
c.810C>T
1 paper
NM_144691.4
p.K268_V269Splc
c.805-2A>G
1 paper
NM_144691.4
p.P305S
c.913C>T
1 paper
NM_144691.4
p.R309H
c.926G>A
1 paper
NM_144691.4
p.T264M
c.791C>T
1 paper
NM_144691.4
p.A260T
c.778G>A
1 paper
NM_144691.4
p.K257Q
c.769A>C
1 paper
NM_144691.4
p.V256L
c.766G>T
1 paper
NM_144691.4
p.L255M
c.763C>A
1 paper
NM_144691.4
p.G319G
c.957C>T
1 paper
NM_144691.4
p.E320K
c.958G>A
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."