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.T736fs

c.2206_2207fs

Surrounding Variants

1 paper

NM_000070.3

p.T736fs

c.2206_2207fs

2 papers

NM_000070.3

p.D735delFs

c.2204_2205delAC

1 paper

NM_000070.3

p.D737_T741del0

c.2210_2221del12

1 paper

NM_000070.3

p.Y734*

c.2202T>A

1 paper

NM_000070.3

p.Y734*

c.2202T>G

4 papers

NM_000070.3

p.Q738*

c.2212C>T

1 paper

NM_000070.3

p.Y734delFs

c.2201_2202delAT

1 paper

NM_000070.3

p.Y734_D735delFs

c.2200_2204del5

1 paper

NM_000070.3

p.S739P

c.2215T>C

1 paper

NM_000070.3

p.G740R

c.2218G>C

1 paper

NM_000070.3

p.T741delFs

c.2221delA

2 papers

NM_000070.3

p.F731S

c.2192T>C