Varaico: Literature-Extracted Genetic Variants

CAPN13

79 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 35–331UCSCCalpain family cysteine protease

Calpain_IIIaa 352–474UCSCCalpain large subunit, domain III

CAPN13-like_C_EFhaa 574–645UCSCCalpain-13-like, C-terminal EF-hand

Gene Aliases

HGNC Name

calpain 13

HGNC Alias Symbol

FLJ23523

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144575.3

p.A42V

c.125C>T

Surrounding Variants

1 paper

NM_144575.3

p.D44A

c.131A>C

2 papers

NM_144575.3

p.E54G

c.161A>G

1 paper

NM_144575.3

p.R56C

c.166C>T

1 paper

NM_144575.3

p.C28G

c.82T>G

1 paper

NM_144575.3

p.R25W

c.73C>T

1 paper

NM_144575.3

p.R64W

c.190C>T

1 paper

NM_144575.3

p.D20E

c.60C>A

1 paper

NM_144575.3

p.I80V

c.238A>G

1 paper

NM_144575.3

p.S81T

c.242G>C

1 paper

NM_144575.3

p.G89G

c.267C>T