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

3 papers

NM_001692.4

p.I164fs

c.490_491fs

Surrounding Variants

2 papers

NM_001692.4

p.I164_G167delFs

c.490_499del10

1 paper

NM_001692.4

p.T166fs

c.496_497fs

8 papers

NM_001692.4

p.T166delFs

c.497delC

3 papers

NM_001692.4

p.T166fs

c.496_497fs

1 paper

NM_001692.4

p.E162K

c.484G>A

4 papers

NM_001692.4

p.E162*

c.484G>T

21 papers

NM_001692.4

p.E161K

c.481G>A

3 papers

NM_001692.4

p.E161del1

c.481_482delGAG

1 paper

NM_001692.4

p.P160H

c.479C>A

2 papers

NM_001692.4

p.I168T

c.503T>C

2 papers

NM_001692.4

p.Y159_E162ins1

c.477_485dup9

1 paper

NM_001692.4

p.S169Y

c.506C>A