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.L69L

c.207G>A

Surrounding Variants

1 paper

NM_023083.4

p.Q67R

c.200A>G

1 paper

NM_023083.4

p.K66T

c.197A>C

1 paper

NM_023083.4

p.C73S

c.217T>A

1 paper

NM_023083.4

p.C73G

c.217T>G

1 paper

NM_023083.4

p.C73S

c.218G>C

1 paper

NM_023083.4

p.W74R

c.220T>A

1 paper

NM_023083.4

p.W74R

c.220T>C

1 paper

NM_023083.4

p.C77*

c.231T>A

3 papers

NM_023083.4

p.A80T

c.238G>A

1 paper

NM_023083.4

p.L55M

c.163C>A

1 paper

NM_023083.4

p.R54R

c.162G>A

1 paper

NM_023083.4

p.P53insFs

c.158_159insT