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

6 papers

NM_030813.6

p.A591V

c.1772C>T

NM_001258392.3

p.A561V

c.1682C>T

Surrounding Variants

1 paper

NM_001258392.3

p.L569L

c.1705C>T

1 paper

NM_001258392.3

p.V585V

c.1755G>A

5 papers

NM_001258392.3

p.Y587C

c.1760A>G

NM_030813.6

p.Y617C

c.1850A>G

2 papers

NM_030813.6

p.R620C

c.1858C>T

1 paper

NM_030813.6

p.R620H

c.1859G>A

1 paper

NM_030813.6

p.I622delFs

c.1865delA

1 paper

NM_001258392.3

p.E545K

c.1633G>A

4 papers

NM_001258392.3

p.Y537C

c.1610A>G

NM_030813.6

p.Y567C

c.1700A>G

2 papers

NM_030813.6

p.I562delFs

c.1685delA

3 papers

NM_030813.6

p.I562fs

c.1684_1685fs

2 papers

NM_030813.6

p.R561Q

c.1682G>A

5 papers

NM_030813.6

p.R561W

c.1681C>T