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.E663_V664Splc

c.1989+1G>A

Surrounding Variants

4 papers

NM_023083.4

p.E663_V664Splc

c.1990-7T>C

4 papers

NM_023083.4

p.I666V

c.1996A>G

1 paper

NM_023083.4

p.V640V

c.1920G>A

1 paper

NM_023083.4

p.A620Fs

c.1859delinsCAFs

1 paper

NM_023083.4

p.S613N

c.1838G>A

1 paper

NM_023083.4

p.R607G

c.1819C>G

1 paper

NM_023083.4

p.P592T

c.1774C>A

1 paper

NM_023083.4

p.S588S

c.1764C>T

1 paper

NM_023083.4

p.V582A

c.1745T>C

1 paper

NM_023083.4

p.T560A

c.1678A>G

1 paper

NM_023083.4

p.I559V

c.1675A>G

3 papers

NM_023083.4

p.R555C

c.1663C>T