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.E517Q

c.1549G>C

Surrounding Variants

1 paper

NM_001748.5

p.L520L

c.1560T>A

2 papers

NM_001748.5

p.E521Q

c.1561G>C

1 paper

NM_001748.5

p.D529N

c.1585G>A

1 paper

NM_001748.5

p.I530T

c.1589T>C

1 paper

NM_001748.5

p.D508N

c.1522G>A

1 paper

NM_001748.5

p.D496N

c.1486G>A

1 paper

NM_001748.5

p.P478L

c.1433C>T

3 papers

NM_001748.5

p.K476R

c.1427A>G

1 paper

NM_001146068.2

p.E392G

c.1175A>G

2 papers

NM_001748.5

p.R461S

c.1381C>A

1 paper

NM_001748.5

p.E460_R461insFs

c.1379_1382dup4

1 paper

NM_001748.5

p.G442V

c.1325G>T