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.D211G

c.632A>G

Surrounding Variants

1 paper

NM_144575.3

p.D211N

c.631G>A

1 paper

NM_144575.3

p.A219V

c.656C>T

3 papers

NM_144575.3

p.A219G

c.656C>G

1 paper

NM_144575.3

p.A191T

c.571G>A

1 paper

NM_144575.3

p.G233V

c.698G>T

2 papers

NM_144575.3

p.G178R

c.532G>C

2 papers

NM_144575.3

p.G178R

c.532G>A

1 paper

NM_144575.3

p.D236V

c.707A>T

1 paper

NM_144575.3

p.A238G

c.713C>G

1 paper

NM_144575.3

p.A240V

c.719C>T

1 paper

NM_144575.3

p.H249Y

c.745C>T

1 paper

NM_144575.3

p.V253E

c.758T>A