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

2 papers

NM_001748.5

p.P78insFs

c.233_234ins14

Surrounding Variants

1 paper

NM_001748.5

p.P78H

c.233C>A

1 paper

NM_001748.5

p.P78fs

c.232_233fs

4 papers

NM_001748.5

p.S68G

c.202A>G

1 paper

NM_001748.5

p.S56*

c.167C>A

1 paper

NM_001748.5

p.P52L

c.155C>T

1 paper

NM_001748.5

p.P49P

c.147G>C

1 paper

NM_001748.5

p.R36G

c.106C>G

1 paper

NM_001748.5

p.D31V

c.92A>T

1 paper

NM_001748.5

p.R23S

c.69G>C

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.A14V

c.41C>T