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

1 paper

NM_001692.4

p.R23*

c.67C>T

Surrounding Variants

1 paper

NM_001692.4

p.G20A

c.59G>C

1 paper

NM_001692.4

p.Q27_A28del2

c.79_83del6

1 paper

NM_001692.4

p.Q27*

c.79C>T

1 paper

NM_001692.4

p.C17insFs

c.49dupT

1 paper

NM_001692.4

p.C17_G20del4

c.49_59del12

13 papers

NM_001692.4

p.T30I

c.89C>T

1 paper

NM_001692.4

p.T30T

c.90C>T

10 papers

NM_001692.4

p.R31*

c.91C>T

1 paper

NM_001692.4

p.G14_N18delFs

c.42_52del11

2 papers

NM_001692.4

p.G14S

c.40G>A

1 paper

NM_001692.4

p.Y33delFs

c.99delC

1 paper

NM_001692.4

p.L12V

c.34C>G