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.E64D

c.192G>C

Surrounding Variants

1 paper

NM_001692.4

p.E64delFs

c.191delA

1 paper

NM_001692.4

p.V66I

c.196G>A

1 paper

NM_001692.4

p.V66A

c.197T>C

1 paper

NM_001692.4

p.Q61R

c.182A>G

1 paper

NM_001692.4

p.Q61delFs

c.183delG

1 paper

NM_001692.4

p.Q61*

c.181C>T

1 paper

NM_001692.4

p.Q61fs

c.181_182fs

13 papers

NM_001692.4

p.K58_F59Splc

c.175-1G>C

1 paper

NM_001692.4

p.D72Y

c.214G>T

1 paper

NM_001692.4

p.T74S

c.220A>T

1 paper

NM_001692.4

p.T74S

c.221C>G

4 papers

NM_001692.4

p.R76S

c.228G>C