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

28 papers

NM_001692.4

p.P346R

c.1037C>G

Surrounding Variants

1 paper

NM_001692.4

p.P346L

c.1037C>T

1 paper

NM_001692.4

p.I347N

c.1040T>A

1 paper

NM_001692.4

p.M350K

c.1049T>A

1 paper

NM_001692.4

p.I342S

c.1025T>G

1 paper

NM_001692.4

p.P351S

c.1051C>T

1 paper

NM_001692.4

p.N352H

c.1054A>C

1 paper

NM_001692.4

p.G340R

c.1018G>A

2 papers

NM_001692.4

p.D354N

c.1060G>A

2 papers

NM_001692.4

p.D354Splc

c.1060+1G>A

1 paper

NM_001692.4

p.E336fs

c.1006_1007fs

1 paper

NM_001692.4

p.E336_G337delFs

c.1007_1010del4

1 paper

NM_001692.4

p.E336_G337delFs

c.1006_1010del5