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.E240*

c.718G>T

Surrounding Variants

1 paper

NM_000070.3

p.F239C

c.716T>G

2 papers

NM_000070.3

p.F239fs

c.715_716fs

1 paper

NM_000070.3

p.F239insFs

c.717dupT

6 papers

NM_000070.3

p.F239delFs

c.717delT

1 paper

NM_000070.3

p.D243N

c.727G>A

17 papers

NM_000070.3

p.A236T

c.706G>A

2 papers

NM_000070.3

p.A244V

c.731C>T

1 paper

NM_000070.3

p.P245insFs

c.734dupC

1 paper

NM_000070.3

p.G234G

c.702G>T

11 papers

NM_000070.3

p.G234E

c.701G>A

1 paper

NM_000070.3

p.G234A

c.701G>C

1 paper

NM_000070.3

p.G234V

c.701G>T