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.E3insFs

c.8_9ins5

Surrounding Variants

1 paper

NM_005186.4

p.M1L

c.1A>T

1 paper

NM_005186.4

p.M1insFs

c.1dupA

1 paper

NM_005186.4

p.I6insFs

c.16dupA

1 paper

NM_005186.4

p.I6insFs

c.18dupC

1 paper

NM_005186.4

p.T7R

c.20C>G

1 paper

NM_005186.4

p.Y10H

c.28T>C

1 paper

NM_005186.4

p.Q17delFs

c.51delA

1 paper

NM_005186.4

p.Q17H

c.51A>C

1 paper

NM_005186.4

p.Q17H

c.51A>T

1 paper

NM_005186.4

p.R24_E25insFs

c.72_73insT

1 paper

NM_005186.4

p.R24S

c.72G>T

1 paper

NM_005186.4

p.G27G

c.81C>A