Varaico: Literature-Extracted Genetic Variants

ATP6V0B

24 papers

RefSeq Summary

This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessa...

Pfam Domains

ATP-synt_Caa 52–111UCSCATP synthase subunit C

ATP-synt_Caa 138–197UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit b

HGNC Previous Symbol

ATP6F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004047.5

p.F96I

c.286T>A

Surrounding Variants

1 paper

NM_004047.5

p.V110V

c.330C>T

1 paper

NM_004047.5

p.A120delFs

c.359_360delCC

1 paper

NM_004047.5

p.A120fs

c.358_359fs

1 paper

NM_004047.5

p.P84insFs

c.251_252ins4

1 paper

NM_004047.5

p.S59S

c.177C>T

1 paper

NM_004047.5

p.N148D

c.442A>G

2 papers

NM_004047.5

p.V155M

c.463G>A

1 paper

NM_004047.5

p.E43*

c.127G>T

1 paper

NM_004047.5

p.I157I

c.471C>T

1 paper

NM_004047.5

p.D166N

c.496G>A

1 paper

NM_004047.5

p.I186T

c.557T>C

1 paper

NM_004047.5

p.D36D

c.108T>C