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.R788Fs

c.2362_2363delinsTCAFs

Surrounding Variants

1 paper

NM_000070.3

p.R788fs

c.2362_2363fs

2 papers

NM_000070.3

p.R788insFs

c.2362_2363insTC

1 paper

NM_000070.3

p.R788Fs

c.2362_2363delinsTFs

27 papers

NM_000070.3

p.R788Fs

c.2362_2363delinsTCATCTFs

12 papers

NM_000070.3

p.R788fs

c.2362_2363fs

1 paper

NM_000070.3

p.R788M

c.2363G>T

1 paper

NM_000070.3

p.R788Fs

c.2363delinsTCATCTFs

1 paper

NM_000070.3

p.V787_R788insFs

c.2361_2362insTC

1 paper

NM_000070.3

p.V787_R788ins1

c.2361_2362insTCA

1 paper

NM_000070.3

p.R788delFs

c.2362delA

2 papers

NM_000070.3

p.R788S

c.2364G>C

2 papers

NM_000070.3

p.R788S

c.2364G>T