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.G10R

c.28G>C

Surrounding Variants

1 paper

NM_001692.4

p.G10R

c.28G>A

4 papers

NM_001692.4

p.P9P

c.27T>C

1 paper

NM_001692.4

p.P9P

c.27T>G

1 paper

NM_001692.4

p.G11insFs

c.33dupG

2 papers

NM_001692.4

p.G11delFs

c.33delG

1 paper

NM_001692.4

p.P9_G10delFs

c.27_28delTG

1 paper

NM_001692.4

p.L12V

c.34C>G

3 papers

NM_001692.4

p.L12fs

c.34_35fs

2 papers

NM_001692.4

p.G14S

c.40G>A

1 paper

NM_001692.4

p.G14_N18delFs

c.42_52del11

1 paper

NM_001692.4

p.D6_S7delFs

c.17_20del4

1 paper

NM_001692.4

p.C17insFs

c.49dupT