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

6 papers

NM_001748.5

p.K568Q

c.1702A>C

Surrounding Variants

1 paper

NM_001748.5

p.I567M

c.1701C>G

1 paper

NM_001748.5

p.D585H

c.1753G>C

1 paper

NM_001748.5

p.D585G

c.1754A>G

1 paper

NM_001748.5

p.D585_S586Splc

c.1755+398G>C

1 paper

NM_001748.5

p.S549F

c.1646C>T

1 paper

NM_001748.5

p.E544_D545Splc

c.1633-2A>G

1 paper

NM_001748.5

p.S586S

c.1758G>A

1 paper

NM_001748.5

p.G588G

c.1764G>A

1 paper

NM_001748.5

p.L600P

c.1799T>C

1 paper

NM_001748.5

p.Y611Y

c.1833C>T

2 papers

NM_001748.5

p.R612*

c.1834C>T

1 paper

NM_001748.5

p.S619P

c.1855T>C