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

Selected Variant

1 paper

NM_001748.5

p.I4insFs

c.11dupT

Surrounding Variants

1 paper

NM_001748.5

p.A2V

c.5C>T

1 paper

NM_001748.5

p.K7T

c.20A>C

1 paper

NM_001748.5

p.M1insFs

c.1dupA

1 paper

NM_001748.5

p.K10T

c.29A>C

1 paper

NM_001748.5

p.K10R

c.29A>G

1 paper

NM_001748.5

p.A14V

c.41C>T

6 papers

NM_001748.5

p.D22E

c.66C>A

6 papers

NM_001748.5

p.D22E

c.66C>G

1 paper

NM_001748.5

p.R23S

c.69G>C

1 paper

NM_001748.5

p.D31V

c.92A>T

1 paper

NM_001748.5

p.R36G

c.106C>G

1 paper

NM_001748.5

p.P49P

c.147G>C