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.I80V

c.238A>G

Surrounding Variants

1 paper

NM_144575.3

p.S81T

c.242G>C

1 paper

NM_144575.3

p.G89G

c.267C>T

1 paper

NM_144575.3

p.W94R

c.280T>A

1 paper

NM_144575.3

p.A97S

c.289G>T

1 paper

NM_144575.3

p.R109insFs

c.326_327insT

1 paper

NM_144575.3

p.R109fs

c.325_326fs

1 paper

NM_144575.3

p.I112M

c.336C>G

1 paper

NM_144575.3

p.Q135K

c.403C>A

1 paper

NM_144575.3

p.V140M

c.418G>A

1 paper

NM_144575.3

p.L153F

c.457C>T

1 paper

NM_144575.3

p.K175Splc

c.524+2T>G

1 paper

NM_144575.3

p.R64W

c.190C>T