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

11 papers

NM_030813.6

p.R417*

c.1249C>T

NM_001258392.3

p.R387*

c.1159C>T

Surrounding Variants

1 paper

NM_001258392.3

p.R387L

c.1160G>T

1 paper

NM_030813.6

p.E419E

c.1257G>A

1 paper

NM_030813.6

p.E419_V420Splc

c.1257+5G>T

2 papers

NM_030813.6

p.E419_V420Splc

c.1257+5G>A

4 papers

NM_001258392.3

p.M381I

c.1143G>T

NM_030813.6

p.M411I

c.1233G>T

4 papers

NM_001258392.3

p.M381I

c.1143G>C

NM_030813.6

p.M411I

c.1233G>C

4 papers

NM_001258392.3

p.M381I

c.1143G>A

NM_030813.6

p.M411I

c.1233G>A

1 paper

NM_030813.6

p.R408W

c.1222A>T

10 papers

NM_001258392.3

p.R378G

c.1132A>G

NM_030813.6

p.R408G

c.1222A>G

4 papers

NM_030813.6

p.P427L

c.1280C>T

1 paper

NM_030813.6

p.G429_Y430delins

c.1286_1288delinsACA

1 paper

NM_030813.6

p.E435_G436delins

c.1305_1307delinsCCC