Varaico: Literature-Extracted Genetic Variants

CLPB

93 papers

RefSeq Summary

This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains th...

Pfam Domains

Ank_2aa 111–197UCSCAnkyrin repeats (3 copies)

Ank_2aa 244–326UCSCAnkyrin repeats (3 copies)

AAA_2aa 372–565UCSCAAA domain (Cdc48 subfamily)

ClpB_D2-smallaa 571–651UCSCC-terminal, D2-small domain, of ClpB protein

Gene Aliases

HGNC Name

ClpB family mitochondrial disaggregase

HGNC Alias Symbols

SKD3; FLJ13152; ANKCLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_030813.6

p.R250*

c.748C>T

Surrounding Variants

1 paper

NM_001258392.3

p.L217R

c.650T>G

1 paper

NM_030813.6

p.N256H

c.766A>C

1 paper

NM_001258392.3

p.R231H

c.692G>A

5 papers

NM_001258392.3

p.T238M

c.713C>T

NM_030813.6

p.T268M

c.803C>T

3 papers

NM_001258392.3

p.A239T

c.715G>A

NM_030813.6

p.A269T

c.805G>A

3 papers

NM_030813.6

p.Y272C

c.815A>G

1 paper

NM_001258392.3

p.R250H

c.749G>A