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

2 papers

NM_000070.3

p.E746E

c.2238G>A

Surrounding Variants

1 paper

NM_000070.3

p.M747insFs

c.2239_2240ins4

3 papers

NM_000070.3

p.Y745*

c.2235C>A

3 papers

NM_000070.3

p.Y745*

c.2235C>G

1 paper

NM_000070.3

p.Y745Y

c.2235C>T

3 papers

NM_000070.3

p.R748G

c.2242C>G

30 papers

NM_000070.3

p.R748*

c.2242C>T

47 papers

NM_000070.3

p.R748Q

c.2243G>A

5 papers

NM_000070.3

p.N749H

c.2245A>C

1 paper

NM_000070.3

p.S744insFs

c.2231_2232ins4

13 papers

NM_000070.3

p.S744G

c.2230A>G

1 paper

NM_000070.3

p.S744insFs

c.2230_2231ins4

1 paper

NM_000070.3

p.N752del1

c.2254_2255delAAC