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

7 papers

NM_000070.3

p.R448L

c.1343G>T

Surrounding Variants

32 papers

NM_000070.3

p.R448H

c.1343G>A

9 papers

NM_000070.3

p.R448G

c.1342C>G

28 papers

NM_000070.3

p.R448C

c.1342C>T

7 papers

NM_000070.3

p.N449H

c.1345A>C

4 papers

NM_000070.3

p.N449K

c.1347C>A

2 papers

NM_000070.3

p.N449K

c.1347C>G

1 paper

NM_000070.3

p.C447R

c.1339T>C

3 papers

NM_000070.3

p.G446S

c.1336G>A

1 paper

NM_000070.3

p.P451P

c.1353A>G

28 papers

NM_000070.3

p.G445R

c.1333G>A

26 papers

NM_000070.3

p.G445R

c.1333G>C

1 paper

NM_000070.3

p.G445*

c.1333G>T