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.L140L

c.420G>A

Surrounding Variants

1 paper

NM_000070.3

p.N141D

c.421A>G

2 papers

NM_000070.3

p.L140insFs

c.419_420insC

2 papers

NM_000070.3

p.L140_Q142del3

c.418_425del9

5 papers

NM_000070.3

p.Q142*

c.424C>T

1 paper

NM_000070.3

p.T139I

c.416C>T

1 paper

NM_000070.3

p.L140insFs

c.418dupC

1 paper

NM_000070.3

p.T139_N141del3

c.415_422del9

1 paper

NM_000070.3

p.H143N

c.427C>A

1 paper

NM_000070.3

p.L144F

c.430C>T

1 paper

NM_000070.3

p.C137Y

c.410G>A

1 paper

NM_000070.3

p.C137insFs

c.411dupC

4 papers

NM_000070.3

p.C137R

c.409T>C