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

8 papers

NM_001258392.3

p.R598C

c.1792C>T

NM_030813.6

p.R628C

c.1882C>T

Surrounding Variants

1 paper

NM_001258392.3

p.R599C

c.1795C>T

1 paper

NM_001258392.3

p.Q603H

c.1809G>T

1 paper

NM_001258392.3

p.Q603H

c.1809G>C

1 paper

NM_030813.6

p.A635delins

c.1903_1904delinsAA

3 papers

NM_001258392.3

p.E609K

c.1825G>A

NM_030813.6

p.E639K

c.1915G>A

1 paper

NM_001258392.3

p.D611N

c.1831G>A

1 paper

NM_001258392.3

p.L613L

c.1837C>T

2 papers

NM_001258392.3

p.G615G

c.1845G>A

5 papers

NM_030813.6

p.G646V

c.1937G>T

NM_001258392.3

p.G616V

c.1847G>T

3 papers

NM_030813.6

p.G646insFs

c.1937_1938insG

2 papers

NM_030813.6

p.C647fs

c.1939_1940fs

3 papers

NM_001258392.3

p.R620C

c.1858C>T