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

11 papers

NM_005186.4

p.R295P

c.884G>C

Surrounding Variants

2 papers

NM_005186.4

p.R295Q

c.884G>A

1 paper

NM_005186.4

p.P297L

c.890C>T

2 papers

NM_005186.4

p.W298*

c.893G>A

2 papers

NM_005186.4

p.W298*

c.894G>A

1 paper

NM_005186.4

p.E300K

c.898G>A

1 paper

NM_005186.4

p.W303G

c.907T>G

10 papers

NM_005186.4

p.T304M

c.911C>T

7 papers

NM_005186.4

p.R285*

c.853C>T

2 papers

NM_005186.4

p.S308T

c.923G>C

1 paper

NM_005186.4

p.S311_S312delFs

c.931_935del5

1 paper

NM_005186.4

p.E313G

c.938A>G

1 paper

NM_005186.4

p.Q281_V282Splc

c.843+269T>C