Varaico: Literature-Extracted Genetic Variants

CAPN1

222 papers

RefSeq Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ub...

Pfam Domains

Peptidase_C2aa 56–352UCSCCalpain family cysteine protease

Calpain_IIIaa 371–514UCSCCalpain large subunit, domain III

EF-hand_8aa 557–617UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 1

HGNC Alias Symbols

muCANP; CANP; CANPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005186.4

p.R57C

c.169C>T

Surrounding Variants

1 paper

NM_005186.4

p.L55F

c.163C>T

2 papers

NM_005186.4

p.F61fs

c.181_182fs

7 papers

NM_005186.4

p.P63insFs

c.188dupC

1 paper

NM_005186.4

p.P63P

c.189G>A

4 papers

NM_005186.4

p.V64fs

c.190_191fs

1 paper

NM_005186.4

p.R48Q

c.143G>A

6 papers

NM_005186.4

p.R48*

c.142C>T

1 paper

NM_005186.4

p.L68_Y81delFs

c.204_241del38

1 paper

NM_005186.4

p.L45fs

c.133_134fs

1 paper

NM_005186.4

p.G69fs

c.205_206fs

1 paper

NM_005186.4

p.Q44delFs

c.132delG

1 paper

NM_005186.4

p.L45_R46del0

c.133_138del6