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

1–12 of 142 variants

29 papers

NM_023083.4

p.T504A

c.1510A>G

5 papers

NM_023083.4

p.A21A

c.63C>T

4 papers

NM_023083.4

p.E663_V664Splc

c.1990-7T>C

4 papers

NM_023083.4

p.I666V

c.1996A>G

3 papers

NM_023083.4

p.L34V

c.100C>G

3 papers

NM_023083.4

p.A80T

c.238G>A

3 papers

NM_023083.4

p.P200T

c.598C>A

3 papers

NM_023083.4

p.A286V

c.857C>T

3 papers

NM_023083.4

p.P374L

c.1121C>T

3 papers

NM_023083.4

p.R555C

c.1663C>T

2 papers

NM_023083.4

p.A10A

c.30G>A

2 papers

NM_023083.4

p.P53S

c.157C>T