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

2 papers

NM_006660.5

p.G298D

c.893G>A

Surrounding Variants

1 paper

NM_006660.5

p.A343G

c.1028C>G

1 paper

NM_006660.5

p.N344K

c.1032T>G

1 paper

NM_006660.5

p.N344K

c.1032T>A

1 paper

NM_006660.5

p.G353Splc

c.1057+3A>T

1 paper

NM_006660.5

p.G296V

c.887G>T

1 paper

NM_006660.5

p.N288H

c.862A>C

1 paper

NM_006660.5

p.S278del1

c.832_833delAGA

1 paper

NM_006660.5

p.R270*

c.808C>T

1 paper

NM_006660.5

p.A255G

c.764C>G

3 papers

NM_006660.5

p.G250S

c.748G>A

1 paper

NM_006660.5

p.E359A

c.1076A>C

1 paper

NM_006660.5

p.G368S

c.1102G>A