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.V431E

c.1292T>A

Surrounding Variants

1 paper

NM_000070.3

p.V431A

c.1292T>C

5 papers

NM_000070.3

p.V431M

c.1291G>A

2 papers

NM_000070.3

p.V431insFs

c.1292_1293insT

1 paper

NM_000070.3

p.V431_S432insFs

c.1293_1294insT

2 papers

NM_000070.3

p.V431_V433Fs

c.1293_1297delinsCFs

1 paper

NM_000070.3

p.T430T

c.1290A>G

1 paper

NM_000070.3

p.S432fs

c.1294_1295fs

1 paper

NM_000070.3

p.V433delFs

c.1298_1299delTG

1 paper

NM_000070.3

p.W429*

c.1287G>A

1 paper

NM_000070.3

p.V433fs

c.1297_1298fs

1 paper

NM_000070.3

p.W429*

c.1286G>A

2 papers

NM_000070.3

p.N434insFs

c.1301dupA