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

2 papers

NM_000070.3

p.D230delFs

c.689delA

Surrounding Variants

1 paper

NM_000070.3

p.D230A

c.689A>C

2 papers

NM_000070.3

p.D230G

c.689A>G

1 paper

NM_000070.3

p.F231S

c.692T>C

1 paper

NM_000070.3

p.M228V

c.682A>G

1 paper

NM_000070.3

p.T232insFs

c.695_696insG

4 papers

NM_000070.3

p.T232I

c.695C>T

1 paper

NM_000070.3

p.A227V

c.680C>T

7 papers

NM_000070.3

p.G233R

c.697G>A

7 papers

NM_000070.3

p.G233R

c.697G>C

1 paper

NM_000070.3

p.G233*

c.697G>T

5 papers

NM_000070.3

p.G233V

c.698G>T

1 paper

NM_000070.3

p.G234delFs

c.700delG