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.F782S

c.2345T>C

Surrounding Variants

20 papers

NM_173088.2

p.D268H

c.802G>C

NM_000070.3

p.D780H

c.2338G>C

1 paper

NM_000070.3

p.F779L

c.2337T>A

1 paper

NM_000070.3

p.F779L

c.2337T>G

1 paper

NM_000070.3

p.F786del1

c.2356_2357delTTC

3 papers

NM_000070.3

p.F779I

c.2335T>A

1 paper

NM_000070.3

p.F779L

c.2335T>C

1 paper

NM_000070.3

p.D778_F779ins4

c.2332_2336ins12

7 papers

NM_000070.3

p.I777T

c.2330T>C

2 papers

NM_000070.3

p.V787_R788insFs

c.2361_2362ins4

1 paper

NM_000070.3

p.I777V

c.2329A>G

1 paper

NM_000070.3

p.V787_R788insFs

c.2361_2362insTC

1 paper

NM_000070.3

p.V787_R788ins1

c.2361_2362insTCA