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

4 papers

NM_005186.4

p.W335*

c.1004G>A

Surrounding Variants

4 papers

NM_005186.4

p.W335*

c.1005G>A

10 papers

NM_005186.4

p.G332R

c.994G>A

7 papers

NM_005186.4

p.G332R

c.994G>C

1 paper

NM_005186.4

p.K328R

c.983A>G

5 papers

NM_005186.4

p.Y320delFs

c.959delA

4 papers

NM_005186.4

p.Y320fs

c.958_959fs

2 papers

NM_005186.4

p.P319L

c.956C>T

1 paper

NM_005186.4

p.N315T

c.944A>C

1 paper

NM_005186.4

p.E313G

c.938A>G

1 paper

NM_005186.4

p.S311_S312delFs

c.931_935del5

4 papers

NM_005186.4

p.W335*

c.1005G>A

1 paper

NM_005186.4

p.S337_F338ins5

c.1009_1013ins15