rab3 GTPase-activating protein non-catalytic subunit [Homo sapiens]

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Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. [Cold Spring Harb Mol Case Stud...]
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R. Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3). Epub 2020 Jun 12.
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? [Ophthalmic Genet. 2018]
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Gumus E. Ophthalmic Genet. 2018 Jun; 39(3):391-395. Epub 2018 Feb 8.
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. [Hum Genet. 2011]
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Hum Genet. 2011 Jan; 129(1):45-50. Epub 2010 Oct 22.

RefSeq genomic sequence
See the genomic reference sequence for the RAB3GAP2 gene (NG_015837.2).
RefSeq mRNA
See reference mRNA sequence for the RAB3GAP2 gene (NM_012414.4).

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NP_036546 [Domain Mapping of Disease Mut...]
NP_036546
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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