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.R417Q

c.1250G>A

Surrounding Variants

1 paper

NM_144575.3

p.P423S

c.1267C>T

1 paper

NM_144575.3

p.F426L

c.1276T>C

1 paper

NM_144575.3

p.F426L

c.1278T>G

1 paper

NM_144575.3

p.F426L

c.1278T>A

1 paper

NM_144575.3

p.S428delFs

c.1282delA

1 paper

NM_144575.3

p.S429L

c.1286C>T

1 paper

NM_144575.3

p.S436I

c.1307G>T

1 paper

NM_144575.3

p.N439del1

c.1315_1316delATT

1 paper

NM_144575.3

p.R442H

c.1325G>A

1 paper

NM_144575.3

p.R443C

c.1327C>T

1 paper

NM_144575.3

p.A467V

c.1400C>T

1 paper

NM_144575.3

p.A467A

c.1401G>A