Varaico: Literature-Extracted Genetic Variants

CLPX

60 papers

RefSeq Summary

The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric ring...

Pfam Domains

Zn_ribbon_CLPX_Naa 101–140UCSCCLPX-like, zinc ribbon domain

AAA_2aa 284–503UCSCAAA domain (Cdc48 subfamily)

ClpB_D2-smallaa 509–591UCSCC-terminal, D2-small domain, of ClpB protein

Gene Aliases

HGNC Name

caseinolytic mitochondrial matrix peptidase chaperone subunit X

HGNC Previous Names

ClpX (caseinolytic protease X, E. coli) homolog; ClpX caseinolytic protease X homolog (E. coli)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006660.5

p.T46I

c.137C>T

Surrounding Variants

1 paper

NM_006660.5

p.Q47K

c.139C>A

1 paper

NM_006660.5

p.A65G

c.194C>G

1 paper

NM_006660.5

p.K67fs

c.199_200fs

1 paper

NM_006660.5

p.K67delFs

c.201delT

1 paper

NM_006660.5

p.G76V

c.227G>T

1 paper

NM_006660.5

p.S84I

c.251G>T

2 papers

NM_006660.5

p.K90T

c.269A>C

1 paper

NM_006660.5

p.D110N

c.328G>A

1 paper

NM_006660.5

p.S23S

c.69C>T

1 paper

NM_006660.5

p.T8S

c.23C>G

1 paper

NM_006660.5

p.T8S

c.22A>T