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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN12

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 111 variants

3 papers

chr19:38740120 GTT>G

NM_144691.4

p.N220delFs

c.658_659delTT

Peptidase_C2

Exome: 0.0% (AC=457, hom=2)Genome: 0.0% (AC=33, hom=0)11 overlapping SVs

3 papers

chr19:38737604 T>C

NM_144691.4

p.T334A

c.1000A>G

Peptidase_C2

Exome: 17.1% (AC=248889, hom=22403)Genome: 14.9% (AC=22736, hom=2001)10 overlapping SVs

2 papers

chr19:38740212 C>T

NM_144691.4

p.G190S

c.568G>A

Peptidase_C2

Exome: 0.3% (AC=4786, hom=90)Genome: 0.7% (AC=1059, hom=26)11 overlapping SVs

2 papers

chr19:38740194 G>A

NM_144691.4

p.R196W

c.586C>T

Peptidase_C2

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

2 papers

chr19:38740149 C>T

NM_144691.4

p.V211M

c.631G>A

Peptidase_C2

Exome: 0.1% (AC=856, hom=1)Genome: 0.0% (AC=76, hom=0)11 overlapping SVs

2 papers

chr19:38738619 C>A

NM_144691.4

p.E253D

c.759G>T

Peptidase_C2

exact variant not in gnomAD10 overlapping SVs

2 papers

chr19:38738619 C>G

NM_144691.4

p.E253D

c.759G>C

Peptidase_C2

Exome: 0.0% (AC=3, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr19:38738449 A>G

NM_144691.4

p.C287R

c.859T>C

Peptidase_C2

Exome: 7.2% (AC=104196, hom=4154)Genome: 8.2% (AC=12511, hom=592)10 overlapping SVs

2 papers

chr19:38737281 G>C

NM_144691.4

p.R413G

c.1237C>G

Calpain_III

Exome: 0.1% (AC=592, hom=0)Genome: 0.0% (AC=11, hom=0)11 overlapping SVs

2 papers

chr19:38736191 A>T

NM_144691.4

p.L501Q

c.1502T>A

Calpain_III

Exome: 0.0% (AC=216, hom=6)Genome: 0.0% (AC=31, hom=0)11 overlapping SVs

1 paper

chr19:38744126 ATC>N

NM_144691.4

p.D14fs

c.40_41fs

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:38744111 C>T

NM_144691.4

p.V19I

c.55G>A

exact variant not in gnomAD13 overlapping SVs

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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."