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

1 paper

NM_005186.4

p.G69fs

c.205_206fs

Surrounding Variants

1 paper

NM_005186.4

p.L68_Y81delFs

c.204_241del38

1 paper

NM_005186.4

p.K71insFs

c.213dupG

1 paper

NM_005186.4

p.D72fs

c.214_215fs

1 paper

NM_005186.4

p.D72_L73insT

c.214_218ins3

1 paper

NM_005186.4

p.D72fs

c.214_215fs

4 papers

NM_005186.4

p.V64fs

c.190_191fs

10 papers

NM_005186.4

p.G74D

c.221G>A

1 paper

NM_005186.4

p.P63P

c.189G>A

7 papers

NM_005186.4

p.P63insFs

c.188dupC

2 papers

NM_005186.4

p.F61fs

c.181_182fs

1 paper

NM_005186.4

p.K79M

c.236A>T

2 papers

NM_005186.4

p.R57C

c.169C>T