Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.L501Q

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.L501Q
c.1502T>A
Surrounding Variants
1 paper
NM_144691.4
p.P504Q
c.1511C>A
1 paper
NM_144691.4
p.A507S
c.1519G>T
1 paper
NM_144691.4
p.A507_H508insA
c.1519_1523ins3
1 paper
NM_144691.4
p.D488_R492ins1
c.1462_1476dup15
1 paper
NM_144691.4
p.S481_R487ins2
c.1442_1459dup18
1 paper
NM_144691.4
p.E522K
c.1564G>A
1 paper
NM_144691.4
p.H469Y
c.1405C>T
1 paper
NM_144691.4
p.P456L
c.1367C>T
1 paper
NM_144691.4
p.D537Y
c.1609G>T
1 paper
NM_144691.4
p.G442S
c.1324G>A
1 paper
NM_144691.4
p.R436Q
c.1307G>A
1 paper
NM_144691.4
p.G414A
c.1241G>C
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