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.D247insFs

c.739dupG

Surrounding Variants

1 paper

NM_000070.3

p.D247_I251del5

c.739_752del15

8 papers

NM_000070.3

p.D247N

c.739G>A

1 paper

NM_000070.3

p.P245P

c.735T>C

1 paper

NM_000070.3

p.M248T

c.743T>C

7 papers

NM_000070.3

p.M248R

c.743T>G

1 paper

NM_000070.3

p.P245insFs

c.734dupC

2 papers

NM_000070.3

p.A244V

c.731C>T

1 paper

NM_000070.3

p.Y249*

c.747C>A

1 paper

NM_000070.3

p.Y249*

c.747C>G

1 paper

NM_000070.3

p.Y249_K254Fs

c.747_760delinsAGGFs

2 papers

NM_000070.3

p.K250R

c.749A>G

1 paper

NM_000070.3

p.D243N

c.727G>A