Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.V364fs

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.V364fs
c.1090_1091fs
Surrounding Variants
1 paper
NM_144691.4
p.G366D
c.1097G>A
1 paper
NM_144691.4
p.H357P
c.1070A>C
1 paper
NM_144691.4
p.G371R
c.1111G>C
1 paper
NM_144691.4
p.G371R
c.1111G>A
1 paper
NM_144691.4
p.G352_W354Fs
c.1055_1060delinsAAGCAFs
1 paper
NM_144691.4
p.G353C
c.1057G>T
1 paper
NM_144691.4
p.G351E
c.1052G>A
1 paper
NM_144691.4
p.V364_E377delFs
c.1090_1129del40
3 papers
NM_144691.4
p.T334A
c.1000A>G
1 paper
NM_144691.4
p.E324*
c.970G>T
1 paper
NM_144691.4
p.T378N
c.1133C>A
1 paper
NM_144691.4
p.W380L
c.1139G>T
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