Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.V160L

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.V160L
c.478G>C
Surrounding Variants
1 paper
NM_144691.4
p.V160L
c.478G>T
1 paper
NM_144691.4
p.P159T
c.475C>A
1 paper
NM_144691.4
p.G163R
c.487G>C
1 paper
NM_144691.4
p.G163R
c.487G>A
1 paper
NM_144691.4
p.F167V
c.499T>G
1 paper
NM_144691.4
p.V168M
c.502G>A
1 paper
NM_144691.4
p.R169_S170insFs
c.507_508insA
1 paper
NM_144691.4
p.R173G
c.517C>G
1 paper
NM_144691.4
p.W177delFs
c.529delA
1 paper
NM_144691.4
p.Y185Y
c.555C>T
1 paper
NM_144691.4
p.V138I
c.412G>A
1 paper
NM_144691.4
p.V124M
c.370G>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."