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.L182Q

c.545T>A

Surrounding Variants

1 paper

NM_000070.3

p.L182V

c.544C>G

1 paper

NM_000070.3

p.L182L

c.546G>A

1 paper

NM_000070.3

p.L182insFs

c.544_545ins5

1 paper

NM_000070.3

p.P183fs

c.547_548fs

1 paper

NM_000070.3

p.C181C

c.543C>T

1 paper

NM_000070.3

p.T184insFs

c.550dupA

2 papers

NM_000070.3

p.P183R

c.548C>G

3 papers

NM_000070.3

p.P183L

c.548C>T

122 papers

NM_000070.3

p.T184delFs

c.550delA

10 papers

NM_000070.3

p.T184fs

c.550_551fs

28 papers

NM_000070.3

p.T184fs

c.550_551fs

1 paper

NM_000070.3

p.D180A

c.539A>C