Varaico: Literature-Extracted Genetic Variants

CAPN10

177 papers

RefSeq Summary

Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subuni...

Pfam Domains

Peptidase_C2aa 14–319UCSCCalpain family cysteine protease

Calpain_IIIaa 342–486UCSCCalpain large subunit, domain III

Calpain_IIIaa 519–643UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023083.4

p.R520W

c.1558C>T

Surrounding Variants

1 paper

NM_023083.4

p.V525V

c.1575C>T

1 paper

NM_023083.4

p.A511V

c.1532C>T

1 paper

NM_023083.4

p.A529fs

c.1585_1586fs

2 papers

NM_023083.4

p.A529S

c.1585G>T

1 paper

NM_023083.4

p.P510S

c.1528C>T

1 paper

NM_023083.4

p.T504fs

c.1510_1511fs

29 papers

NM_023083.4

p.T504A

c.1510A>G

1 paper

NM_023083.4

p.T504delFs

c.1511delC

1 paper

NM_023083.4

p.T540A

c.1618A>G

1 paper

NM_023083.4

p.A495insFs

c.1484_1485insG

1 paper

NM_023083.4

p.E550K

c.1648G>A

1 paper

NM_023083.4

p.G551S

c.1651G>A