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.D452Splc

c.1355-1G>C

Surrounding Variants

1 paper

NM_000070.3

p.D452Splc

c.1355-1G>A

1 paper

NM_000070.3

p.D452Splc

c.1355-1G>T

1 paper

NM_000070.3

p.D452_T453insFs

c.1356_1357insT

2 papers

NM_000070.3

p.D452_T453insFs

c.1356_1357insA

1 paper

NM_000070.3

p.T453fs

c.1357_1358fs

1 paper

NM_000070.3

p.D452Splc

c.1355-6G>A

2 papers

NM_000070.3

p.D452Splc

c.1355-6G>T

2 papers

NM_000070.3

p.F454S

c.1361T>C

1 paper

NM_000070.3

p.D452Splc

c.1355-10G>A

1 paper

NM_000070.3

p.T456S

c.1366A>T

1 paper

NM_000070.3

p.T456S

c.1367C>G

2 papers

NM_000070.3

p.T456T

c.1368C>A