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

1–12 of 309 variants

29 papers

NM_001692.4

p.P385insFs

c.1155dupC

28 papers

NM_001692.4

p.P346R

c.1037C>G

21 papers

NM_001692.4

p.E161K

c.481G>A

18 papers

NM_001692.4

p.L81P

c.242T>C

17 papers

NM_001692.4

p.I386fs

c.1156_1157fs

13 papers

NM_001692.4

p.T30I

c.89C>T

13 papers

NM_001692.4

p.K58_F59Splc

c.175-1G>C

13 papers

NM_001692.4

p.R394Q

c.1181G>A

12 papers

NM_001692.4

p.R124W

c.370C>T

11 papers

NM_001692.4

p.M1T

c.2T>C

11 papers

NM_001692.4

p.G78R

c.232G>A

11 papers

NM_001692.4

p.G78R

c.232G>C