Varaico: Literature-Extracted Genetic Variants

CAPN3

712 papers

RefSeq Summary

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of ...

Pfam Domains

Peptidase_C2aa 75–415UCSCCalpain family cysteine protease

Calpain_IIIaa 434–574UCSCCalpain large subunit, domain III

Calpain_u2aa 583–636UCSCUnstructured region on Calpain-3

CAPN13-like_C_EFhaa 728–796UCSCCalpain-13-like, C-terminal EF-hand

Gene Aliases

HGNC Name

calpain 3

HGNC Previous Symbols

LGMD2; LGMD2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000070.3

p.I502V

c.1504A>G

Surrounding Variants

2 papers

NM_000070.3

p.G503_F504delFs

c.1507_1511del5

10 papers

NM_000070.3

p.I502T

c.1505T>C

1 paper

NM_000070.3

p.I502S

c.1505T>G

3 papers

NM_000070.3

p.T501I

c.1502C>T

1 paper

NM_000070.3

p.I502_A505del4

c.1504_1514del12

2 papers

NM_000070.3

p.G503fs

c.1507_1508fs

1 paper

NM_000070.3

p.A505S

c.1513G>T

2 papers

NM_000070.3

p.I506T

c.1517T>C

1 paper

NM_000070.3

p.A497V

c.1490C>T

1 paper

NM_000070.3

p.Y507C

c.1520A>G

15 papers

NM_000070.3

p.G496R

c.1486G>A

1 paper

NM_000070.3

p.E508K

c.1522G>A