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.A212P

c.634G>C

Surrounding Variants

1 paper

NM_001748.5

p.E205K

c.613G>A

1 paper

NM_001748.5

p.F204F

c.612C>T

1 paper

NM_001748.5

p.T201S

c.602C>G

1 paper

NM_001748.5

p.T201S

c.601A>T

1 paper

NM_001748.5

p.S196L

c.587C>T

1 paper

NM_001748.5

p.L195P

c.584T>C

1 paper

NM_001748.5

p.E193K

c.577G>A

2 papers

NM_001748.5

p.Q233_K234ins14

c.697_701ins42

3 papers

NM_001748.5

p.S236F

c.707C>T

1 paper

NM_001748.5

p.D243D

c.729C>T

1 paper

NM_001748.5

p.Y185C

c.554A>G

1 paper

NM_001748.5

p.A179T

c.535G>A