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

4 papers

NM_001748.5

p.E398G

c.1193A>G

Surrounding Variants

1 paper

NM_001748.5

p.K390R

c.1169A>G

1 paper

NM_001748.5

p.T406I

c.1217C>T

1 paper

NM_001748.5

p.P385L

c.1154C>T

1 paper

NM_001748.5

p.I412delFs

c.1234delA

1 paper

NM_001748.5

p.Q413E

c.1237C>G

1 paper

NM_001748.5

p.H415Q

c.1245C>A

1 paper

NM_001748.5

p.H415Q

c.1245C>G

1 paper

NM_001748.5

p.R416*

c.1246C>T

1 paper

NM_001748.5

p.R417W

c.1249C>T

1 paper

NM_001748.5

p.R418W

c.1252C>T

1 paper

NM_001748.5

p.Q419P

c.1256A>C

1 paper

NM_001748.5

p.G423R

c.1267G>C