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.S202insFs

c.606dupT

Surrounding Variants

3 papers

NM_000070.3

p.S202S

c.606T>C

2 papers

NM_000070.3

p.A203V

c.608C>T

1 paper

NM_000070.3

p.W201*

c.602G>A

5 papers

NM_000070.3

p.L204del1

c.610_611delCTG

4 papers

NM_000070.3

p.L204V

c.610C>G

1 paper

NM_000070.3

p.L204L

c.610C>T

1 paper

NM_000070.3

p.F200I

c.598T>A

1 paper

NM_000070.3

p.E199A

c.596A>C

35 papers

NM_000070.3

p.F200_L204del0

c.598_612del15

1 paper

NM_000070.3

p.L205P

c.614T>C

1 paper

NM_000070.3

p.E199K

c.595G>A

2 papers

NM_000070.3

p.E199Q

c.595G>C