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.S479S

c.1437C>T

Surrounding Variants

13 papers

NM_000070.3

p.S479G

c.1435A>G

2 papers

NM_000070.3

p.A483T

c.1447G>A

5 papers

NM_000070.3

p.A483D

c.1448C>A

1 paper

NM_000070.3

p.A483V

c.1448C>T

1 paper

NM_000070.3

p.E475G

c.1424A>G

1 paper

NM_000070.3

p.E475delFs

c.1425delG

2 papers

NM_000070.3

p.L484M

c.1450C>A

1 paper

NM_000070.3

p.L484P

c.1451T>C

2 papers

NM_000070.3

p.M485V

c.1453A>G

5 papers

NM_000070.3

p.Q486E

c.1456C>G

31 papers

NM_000070.3

p.R489W

c.1465C>T

33 papers

NM_000070.3

p.R489Q

c.1466G>A