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.K491E

c.1471A>G

Surrounding Variants

2 papers

NM_000070.3

p.K491fs

c.1471_1472fs

45 papers

NM_000070.3

p.R490Q

c.1469G>A

NM_173087.2

p.R442Q

c.1325G>A

61 papers

NM_000070.3

p.R490W

c.1468C>T

2 papers

NM_000070.3

p.R490delFs

c.1470delG

1 paper

NM_000070.3

p.R490fs

c.1468_1469fs

1 paper

NM_000070.3

p.D492E

c.1476C>A

1 paper

NM_000070.3

p.D492_R493insFs

c.1476_1477ins17

1 paper

NM_000070.3

p.D492E

c.1476C>G

33 papers

NM_000070.3

p.R489Q

c.1466G>A

1 paper

NM_000070.3

p.R493R

c.1477C>A

2 papers

NM_000070.3

p.R493G

c.1477C>G

31 papers

NM_000070.3

p.R489W

c.1465C>T