Varaico: Literature-Extracted Genetic Variants

ATP6V1B1

272 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

ATP-synt_ab_Naa 44–110UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 167–393UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 398–498UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit B1

HGNC Previous Symbols

VPP3; ATP6B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001692.4

p.G136delFs

c.408delG

Surrounding Variants

1 paper

NM_001692.4

p.K135*

c.403A>T

1 paper

NM_001692.4

p.P137fs

c.409_410fs

4 papers

NM_001692.4

p.P137S

c.409C>T

1 paper

NM_001692.4

p.P137fs

c.409_410fs

1 paper

NM_001692.4

p.V139L

c.415G>C

1 paper

NM_001692.4

p.K131_P132insFs

c.393_394insG

1 paper

NM_001692.4

p.G130R

c.388G>C

1 paper

NM_001692.4

p.S129S

c.387C>A

1 paper

NM_001692.4

p.A141A

c.423G>C

1 paper

NM_001692.4

p.F144_L145del0

c.430_435del6

2 papers

NM_001692.4

p.F126S

c.377T>C

2 papers

NM_001692.4

p.D146G

c.437A>G