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.A418S

c.1252G>T

Surrounding Variants

20 papers

NM_000070.3

p.T417M

c.1250C>T

1 paper

NM_000070.3

p.T417A

c.1249A>G

2 papers

NM_000070.3

p.D419G

c.1256A>G

4 papers

NM_000070.3

p.D419E

c.1257T>A

4 papers

NM_000070.3

p.D419E

c.1257T>G

5 papers

NM_000070.3

p.A420D

c.1259C>A

1 paper

NM_000070.3

p.N415S

c.1244A>G

2 papers

NM_000070.3

p.L421L

c.1261C>T

1 paper

NM_000070.3

p.C414*

c.1242C>A

1 paper

NM_000070.3

p.L421L

c.1263G>A

2 papers

NM_000070.3

p.S423P

c.1267T>C

1 paper

NM_000070.3

p.K425*

c.1273A>T