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

1 paper

NM_001258392.3

p.L434F

c.1300C>T

Surrounding Variants

1 paper

NM_030813.6

p.D462fs

c.1384_1385fs

2 papers

NM_030813.6

p.P461insFs

c.1383dupA

1 paper

NM_001258392.3

p.T435_I436delins

c.1305_1307delinsCCC

1 paper

NM_001258392.3

p.E425A

c.1274A>C

2 papers

NM_030813.6

p.E455Q

c.1363G>C

NM_001258392.3

p.E425Q

c.1273G>C

1 paper

NM_001258392.3

p.V421delFs

c.1263delC

7 papers

NM_001258392.3

p.P417S

c.1249C>T

1 paper

NM_030813.6

p.E435_G436delins

c.1305_1307delinsCCC

1 paper

NM_030813.6

p.G429_Y430delins

c.1286_1288delinsACA

4 papers

NM_030813.6

p.P427L

c.1280C>T

1 paper

NM_030813.6

p.E419_V420Splc

c.1257+5G>T

2 papers

NM_030813.6

p.E419_V420Splc

c.1257+5G>A