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.N134D

c.400A>G

Surrounding Variants

1 paper

NM_001748.5

p.E133*

c.397G>T

1 paper

NM_001748.5

p.F141I

c.421T>A

1 paper

NM_001748.5

p.Q142*

c.424C>T

1 paper

NM_001748.5

p.L114V

c.340C>G

1 paper

NM_001748.5

p.I111F

c.331A>T

3 papers

NM_001748.5

p.C105S

c.314G>C

3 papers

NM_001748.5

p.C105S

c.313T>A

1 paper

NM_001748.5

p.W144S

c.431G>C

1 paper

NM_001748.5

p.G147S

c.439G>A

1 paper

NM_001748.5

p.G147C

c.439G>T

1 paper

NM_001748.5

p.G147A

c.440G>C

1 paper

NM_001748.5

p.V153M

c.457G>A