vacuolar H+-ATPase 56,000 subunit [Homo sapiens]

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant. [Genet Med. 2021]
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, et al. Genet Med. 2021 Jan; 23(1):149-154. Epub 2020 Sep 2.
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. [Eur J Med Genet. 2020]
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Shaw M, Winczewska-Wiktor A, Badura-Stronka M, Koirala S, Gardner A, Kuszel Ł, Kowal P, Steinborn B, Starczewska M, Garry S, et al. Eur J Med Genet. 2020 Apr; 63(4):103799. Epub 2019 Oct 23.
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. [Clin Case Rep. 2017]
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
Menendez I, Carranza C, Herrera M, Marroquin N, Foster J 2nd, Cengiz FB, Bademci G, Tekin M. Clin Case Rep. 2017 Apr; 5(4):376-379. Epub 2017 Feb 8.

RefSeq genomic sequence
See the genomic reference sequence for the ATP6V1B2 gene (NG_047013.1).
RefSeq protein
See the reference protein sequence for V-type proton ATPase subunit B, brain isoform (NP_001684.2).

Nucleotide
Nucleotide sequence from coding region
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BioSystems
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

vacuolar H+-ATPase 56,000 subunit [Homo sapiens]
vacuolar H+-ATPase 56,000 subunit [Homo sapiens]
gi|522193|gb|AAA58661.1|

Protein
Arabidopsis thaliana mRNA for Z43 snoRNA
Arabidopsis thaliana mRNA for Z43 snoRNA
gi|5565726|emb|AJ240080.1|

Nucleotide
Arabidopsis thaliana mRNA for cytosolic glucose-6-phosphate 1-dehydrogenase ACG9
Arabidopsis thaliana mRNA for cytosolic glucose-6-phosphate 1-dehydrogenase ACG9
gi|5732194|emb|AJ010970.1|

Nucleotide

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Protein