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

2 papers

NM_030813.6

p.R561G

c.1681C>G

Surrounding Variants

5 papers

NM_030813.6

p.R561W

c.1681C>T

2 papers

NM_030813.6

p.R561Q

c.1682G>A

3 papers

NM_030813.6

p.G560R

c.1678G>C

3 papers

NM_030813.6

p.G560R

c.1678G>A

3 papers

NM_030813.6

p.I562fs

c.1684_1685fs

2 papers

NM_030813.6

p.I562delFs

c.1685delA

2 papers

NM_030813.6

p.E557K

c.1669G>A

4 papers

NM_001258392.3

p.Y537C

c.1610A>G

NM_030813.6

p.Y567C

c.1700A>G

1 paper

NM_001258392.3

p.R524Q

c.1571G>A

1 paper

NM_001258392.3

p.R524W

c.1570C>T

1 paper

NM_001258392.3

p.E545K

c.1633G>A

1 paper

NM_001258392.3

p.S507L

c.1520C>T