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

1–12 of 86 variants

7 papers

NM_144575.3

p.A280T

c.838G>A

3 papers

NM_144575.3

p.A219G

c.656C>G

3 papers

NM_144575.3

p.I596T

c.1787T>C

2 papers

NM_144575.3

p.E54G

c.161A>G

2 papers

NM_144575.3

p.G178R

c.532G>C

2 papers

NM_144575.3

p.G178R

c.532G>A

2 papers

NM_144575.3

p.R308Q

c.923G>A

2 papers

NM_144575.3

p.Q349K

c.1045C>A

1 paper

NM_144575.3

p.D20E

c.60C>A

1 paper

NM_144575.3

p.R25W

c.73C>T

1 paper

NM_144575.3

p.C28G

c.82T>G

1 paper

NM_144575.3

p.A42V

c.125C>T