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

1 paper

NM_000070.3

p.W130*

c.389G>A

Surrounding Variants

2 papers

NM_000070.3

p.W130*

c.390G>A

2 papers

NM_000070.3

p.W130C

c.390G>C

2 papers

NM_000070.3

p.W130C

c.390G>T

2 papers

NM_000070.3

p.W130R

c.388T>A

2 papers

NM_000070.3

p.W130R

c.388T>C

64 papers

NM_000070.3

p.C129S

c.386G>C

64 papers

NM_000070.3

p.C129S

c.385T>A

1 paper

NM_000070.3

p.D128E

c.384C>A

1 paper

NM_000070.3

p.D128V

c.383A>T

1 paper

NM_000070.3

p.D128_C129insG

c.382_386ins3

1 paper

NM_000070.3

p.D128Y

c.382G>T

1 paper

NM_000070.3

p.D128fs

c.382_383fs