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.P20delFs

c.60delC

Surrounding Variants

1 paper

NM_023083.4

p.A17V

c.50C>T

5 papers

NM_023083.4

p.A21A

c.63C>T

1 paper

NM_023083.4

p.R15Q

c.44G>A

1 paper

NM_023083.4

p.S24T

c.70T>A

2 papers

NM_023083.4

p.A10A

c.30G>A

1 paper

NM_023083.4

p.C28*

c.84C>A

1 paper

NM_023083.4

p.T8T

c.24G>A

3 papers

NM_023083.4

p.L34V

c.100C>G

1 paper

NM_023083.4

p.L34L

c.100C>T

1 paper

NM_023083.4

p.A3V

c.8C>T

1 paper

NM_023083.4

p.M1I

c.3G>C

1 paper

NM_023083.4

p.E39A

c.116A>C