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

4 papers

NM_030813.6

p.I682N

c.2045T>A

NM_001258392.3

p.I652N

c.1955T>A

Surrounding Variants

1 paper

NM_001258392.3

p.A641V

c.1922C>T

1 paper

NM_001258392.3

p.R665Q

c.1994G>A

1 paper

NM_001258392.3

p.E635delins

c.1903_1904delinsAA

2 papers

NM_030813.6

p.R650P

c.1949G>C

1 paper

NM_001258392.3

p.R620H

c.1859G>A

3 papers

NM_001258392.3

p.R620C

c.1858C>T

2 papers

NM_030813.6

p.C647fs

c.1939_1940fs

3 papers

NM_030813.6

p.G646insFs

c.1937_1938insG

5 papers

NM_030813.6

p.G646V

c.1937G>T

NM_001258392.3

p.G616V

c.1847G>T

2 papers

NM_001258392.3

p.G615G

c.1845G>A

1 paper

NM_001258392.3

p.L613L

c.1837C>T

1 paper

NM_001258392.3

p.D611N

c.1831G>A