Varaico: Literature-Extracted Genetic Variants

CAPN1

222 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 56–352UCSCCalpain family cysteine protease

Calpain_IIIaa 371–514UCSCCalpain large subunit, domain III

EF-hand_8aa 557–617UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 1

HGNC Alias Symbols

muCANP; CANP; CANPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005186.4

p.Q281_V282Splc

c.843+269T>C

Surrounding Variants

1 paper

NM_005186.4

p.Q281_V282Splc

c.843+195T>C

1 paper

NM_005186.4

p.Q281_V282Splc

c.843+161T>A

8 papers

NM_005186.4

p.Q281_V282Splc

c.843+1G>C

1 paper

NM_005186.4

p.G278R

c.832G>A

1 paper

NM_005186.4

p.G278W

c.832G>T

1 paper

NM_005186.4

p.K270K

c.810G>A

1 paper

NM_005186.4

p.E261A

c.782A>C

1 paper

NM_005186.4

p.V257I

c.769G>A

1 paper

NM_005186.4

p.S255Y

c.764C>A

1 paper

NM_005186.4

p.I254I

c.762C>T

1 paper

NM_005186.4

p.D253_I254Splc

c.760-1G>A

7 papers

NM_005186.4

p.R285*

c.853C>T