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.K425*

c.1273A>T

Surrounding Variants

1 paper

NM_000070.3

p.L426delFs

c.1276_1277delCT

1 paper

NM_000070.3

p.L426F

c.1276C>T

1 paper

NM_000070.3

p.L426fs

c.1276_1277fs

1 paper

NM_000070.3

p.L426insFs

c.1277_1278ins4

1 paper

NM_000070.3

p.L426_Q427insFs

c.1278_1279insC

1 paper

NM_000070.3

p.L426_Q427insFs

c.1278_1279ins4

2 papers

NM_000070.3

p.S423P

c.1267T>C

1 paper

NM_000070.3

p.L421L

c.1263G>A

2 papers

NM_000070.3

p.L421L

c.1261C>T

1 paper

NM_000070.3

p.W429*

c.1286G>A

5 papers

NM_000070.3

p.A420D

c.1259C>A

1 paper

NM_000070.3

p.W429*

c.1287G>A