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.R331Q

c.992G>A

Surrounding Variants

2 papers

NM_001692.4

p.R331W

c.991C>T

7 papers

NM_001692.4

p.E330K

c.988G>A

1 paper

NM_001692.4

p.E330Q

c.988G>C

1 paper

NM_001692.4

p.Y329*

c.987C>A

1 paper

NM_001692.4

p.Y329*

c.987C>G

1 paper

NM_001692.4

p.R334S

c.1000C>A

1 paper

NM_001692.4

p.I328T

c.983T>C

4 papers

NM_001692.4

p.R334R

c.1002C>T

1 paper

NM_001692.4

p.V335M

c.1003G>A

1 paper

NM_001692.4

p.E336_G337delFs

c.1007_1010del4

1 paper

NM_001692.4

p.E336_G337delFs

c.1006_1010del5

1 paper

NM_001692.4

p.E336fs

c.1006_1007fs