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

1–12 of 146 variants

8 papers

NM_030813.6

p.R417*

c.1249C>T

7 papers

NM_001258392.3

p.P417S

c.1249C>T

6 papers

NM_030813.6

p.R408G

c.1222A>G

5 papers

NM_030813.6

p.R250*

c.748C>T

5 papers

NM_030813.6

p.R561W

c.1681C>T

5 papers

NM_030813.6

p.A591V

c.1772C>T

5 papers

NM_001258392.3

p.R598C

c.1792C>T

4 papers

NM_030813.6

p.T268M

c.803C>T

4 papers

NM_001258392.3

p.R378G

c.1132A>G

4 papers

NM_001258392.3

p.R387*

c.1159C>T

4 papers

NM_030813.6

p.P427L

c.1280C>T

4 papers

NM_030813.6

p.Y617C

c.1850A>G