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.D764fs

c.2290_2291fs

Surrounding Variants

3 papers

NM_000070.3

p.Y763*

c.2289T>A

3 papers

NM_000070.3

p.Y763*

c.2289T>G

2 papers

NM_000070.3

p.D764delFs

c.2290delG

1 paper

NM_000070.3

p.Y763S

c.2288A>C

14 papers

NM_000070.3

p.Y763C

c.2288A>G

1 paper

NM_000070.3

p.D764D

c.2292C>T

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.L762F

c.2284C>T

1 paper

NM_000070.3

p.M768V

c.2302A>G

2 papers

NM_000070.3

p.N760insFs

c.2278_2279insA

1 paper

NM_000070.3

p.N759Y

c.2275A>T