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.S194F

c.581C>T

Surrounding Variants

1 paper

NM_000070.3

p.N195T

c.584A>C

1 paper

NM_000070.3

p.N195N

c.585C>T

1 paper

NM_000070.3

p.T192S

c.575C>G

5 papers

NM_000070.3

p.T192I

c.575C>T

1 paper

NM_000070.3

p.T192S

c.574A>T

2 papers

NM_000070.3

p.R197C

c.589C>T

3 papers

NM_000070.3

p.R197H

c.590G>A

3 papers

NM_000070.3

p.N198S

c.593A>G

2 papers

NM_000070.3

p.V190F

c.568G>T

1 paper

NM_000070.3

p.F191delFs

c.572delT

1 paper

NM_000070.3

p.E199K

c.595G>A

2 papers

NM_000070.3

p.E199Q

c.595G>C