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

41 papers

NM_000070.3

p.D707G

c.2120A>G

Surrounding Variants

1 paper

NM_000070.3

p.D707A

c.2120A>C

2 papers

NM_000070.3

p.T706K

c.2117C>A

3 papers

NM_000070.3

p.T706R

c.2117C>G

1 paper

NM_000070.3

p.T706I

c.2117C>T

1 paper

NM_000070.3

p.T706insFs

c.2116_2117insGT

1 paper

NM_000070.3

p.T706fs

c.2116_2117fs

2 papers

NM_000070.3

p.S709P

c.2125T>C

1 paper

NM_000070.3

p.G710E

c.2129G>A

1 paper

NM_000070.3

p.L712_Q715del4

c.2134_2144del12

4 papers

NM_000070.3

p.L712F

c.2134C>T

1 paper

NM_000070.3

p.E716K

c.2146G>A

1 paper

NM_000070.3

p.E716Q

c.2146G>C