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.W275*

c.825G>A

Surrounding Variants

1 paper

NM_144575.3

p.W275*

c.824G>A

7 papers

NM_144575.3

p.A280T

c.838G>A

1 paper

NM_144575.3

p.R285H

c.854G>A

1 paper

NM_144575.3

p.R262*

c.784C>T

2 papers

NM_144575.3

p.R308Q

c.923G>A

1 paper

NM_144575.3

p.Q321*

c.961C>T

1 paper

NM_144575.3

p.Q322H

c.966G>T

1 paper

NM_144575.3

p.Q322H

c.966G>C

1 paper

NM_144575.3

p.A326_M327insT

c.976_980ins3

1 paper

NM_144575.3

p.S348F

c.1043C>T

2 papers

NM_144575.3

p.Q349K

c.1045C>A

1 paper

NM_144575.3

p.V253E

c.758T>A