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.N759Y

c.2275A>T

Surrounding Variants

12 papers

NM_000070.3

p.N759_Q761del3

c.2275_2282del9

2 papers

NM_000070.3

p.N760insFs

c.2278_2279insA

2 papers

NM_000070.3

p.L758F

c.2272C>T

1 paper

NM_000070.3

p.H757D

c.2269C>G

1 paper

NM_000070.3

p.H757Y

c.2269C>T

1 paper

NM_000070.3

p.L762F

c.2284C>T

1 paper

NM_000070.3

p.F756_L758del3

c.2266_2273del9

2 papers

NM_000070.3

p.Y763delFs

c.2287_2288delTA

1 paper

NM_000070.3

p.Y763del1

c.2287_2288delTAT

1 paper

NM_000070.3

p.G755Splc

c.2264-1G>A

1 paper

NM_000070.3

p.G755Splc

c.2264-1G>C

1 paper

NM_000070.3

p.Y763S

c.2288A>C