Varaico: Literature-Extracted Genetic Variants

CAPN2

141 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 46–342UCSCCalpain family cysteine protease

Calpain_IIIaa 361–502UCSCCalpain large subunit, domain III

EF-hand_8aa 544–604UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 2

HGNC Alias Symbols

mCANP; CANPml; CANPL2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

6 papers

NM_001748.5

p.D22E

c.66C>A

6 papers

NM_001748.5

p.D22E

c.66C>G

6 papers

NM_001748.5

p.K568Q

c.1702A>C

4 papers

NM_001748.5

p.S68G

c.202A>G

4 papers

NM_001748.5

p.E398G

c.1193A>G

3 papers

NM_001748.5

p.C105S

c.313T>A

3 papers

NM_001748.5

p.C105S

c.314G>C

3 papers

NM_001748.5

p.S236F

c.707C>T

3 papers

NM_001748.5

p.K476R

c.1427A>G

2 papers

NM_001748.5

p.P78insFs

c.233_234ins14

2 papers

NM_001748.5

p.T160I

c.479C>T

2 papers

NM_001748.5

p.Q233_K234ins14

c.697_701ins42