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

4 papers

NM_000070.3

p.R147*

c.439C>T

Surrounding Variants

1 paper

NM_000070.3

p.F146F

c.438C>T

4 papers

NM_000070.3

p.R147P

c.440G>C

1 paper

NM_000070.3

p.V148L

c.442G>C

1 paper

NM_000070.3

p.L145F

c.433C>T

1 paper

NM_000070.3

p.P150_H151del2

c.448_452del6

3 papers

NM_000070.3

p.P150A

c.448C>G

1 paper

NM_000070.3

p.L144F

c.430C>T

3 papers

NM_000070.3

p.P150P

c.450C>T

1 paper

NM_000070.3

p.H143N

c.427C>A

1 paper

NM_000070.3

p.H151R

c.452A>G

5 papers

NM_000070.3

p.Q142*

c.424C>T

1 paper

NM_000070.3

p.N141D

c.421A>G