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.D753insFs

c.2258dupA

Surrounding Variants

20 papers

NM_000070.3

p.D753N

c.2257G>A

9 papers

NM_000070.3

p.D753Fs

c.2257delinsAAFs

3 papers

NM_000070.3

p.D753fs

c.2257_2258fs

5 papers

NM_000070.3

p.D753fs

c.2257_2258fs

3 papers

NM_000070.3

p.N752_D753insFs

c.2256_2257insA

1 paper

NM_000070.3

p.N752del1

c.2254_2255delAAC

5 papers

NM_000070.3

p.G755R

c.2263G>A

4 papers

NM_000070.3

p.G755R

c.2263G>C

2 papers

NM_000070.3

p.G755Splc

c.2263+1G>C

1 paper

NM_000070.3

p.G755Splc

c.2263+2T>A

5 papers

NM_000070.3

p.N749H

c.2245A>C

47 papers

NM_000070.3

p.R748Q

c.2243G>A