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

10 papers

NM_005186.4

p.P136delFs

c.406delC

Surrounding Variants

6 papers

NM_005186.4

p.P136fs

c.406_407fs

1 paper

NM_005186.4

p.R133Q

c.398G>A

12 papers

NM_005186.4

p.R133*

c.397C>T

1 paper

NM_005186.4

p.R133_Q139del7

c.397_416del21

1 paper

NM_005186.4

p.L131L

c.391C>T

1 paper

NM_005186.4

p.Q142*

c.424C>T

1 paper

NM_005186.4

p.D128G

c.383A>G

1 paper

NM_005186.4

p.D128N

c.382G>A

1 paper

NM_005186.4

p.N127S

c.380A>G

1 paper

NM_005186.4

p.G147A

c.440G>C

1 paper

NM_005186.4

p.L117L

c.351C>T

1 paper

NM_005186.4

p.W116C

c.348G>C