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.F301L

c.903C>G

Surrounding Variants

1 paper

NM_023083.4

p.F301L

c.903C>A

1 paper

NM_023083.4

p.F301L

c.901T>C

1 paper

NM_023083.4

p.E298D

c.894A>C

1 paper

NM_023083.4

p.E298D

c.894A>T

1 paper

NM_023083.4

p.E306K

c.916G>A

1 paper

NM_023083.4

p.Q295*

c.883C>T

3 papers

NM_023083.4

p.A286V

c.857C>T

1 paper

NM_023083.4

p.P320L

c.959C>T

1 paper

NM_023083.4

p.G280R

c.838G>A

1 paper

NM_023083.4

p.E279insFs

c.835_836ins22

1 paper

NM_023083.4

p.L336V

c.1006C>G

1 paper

NM_023083.4

p.A341V

c.1022C>T