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.R169G

c.505C>G

Surrounding Variants

3 papers

NM_000070.3

p.R169C

c.505C>T

1 paper

NM_000070.3

p.R169H

c.506G>A

1 paper

NM_000070.3

p.R169P

c.506G>C

1 paper

NM_000070.3

p.W168R

c.502T>A

1 paper

NM_000070.3

p.W168R

c.502T>C

6 papers

NM_000070.3

p.Y170C

c.509A>G

1 paper

NM_000070.3

p.Y170*

c.510T>A

2 papers

NM_000070.3

p.F167S

c.500T>C

1 paper

NM_000070.3

p.Y170*

c.510T>G

1 paper

NM_000070.3

p.Y170_G171insFs

c.510_511insA

1 paper

NM_000070.3

p.G171R

c.511G>A

1 paper

NM_000070.3

p.F167fs

c.499_500fs