NADH-cytochrome b5 reductase 3 isoform 2 [Homo sapiens]

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CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults. [Circ Genom Precis Med. 2024]
CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults.
Chaudhary R, Straub AC, Aggor FEY, Onasanya I, Richardson J, Strollo PJ, Reis SE, Olafiranye O. Circ Genom Precis Med. 2024 Apr; 17(2):e004271. Epub 2024 Feb 14.
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia. [Mol Biol Rep. 2022]
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar A, Kulkarni A, Kedar P. Mol Biol Rep. 2022 Mar; 49(3):2141-2147. Epub 2022 Jan 22.
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. [Hum Mutat. 2020]
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. Hum Mutat. 2020 Apr; 41(4):737-748. Epub 2020 Jan 30.

RefSeq genomic sequence
See the genomic reference sequence for the CYB5R3 gene (NG_012194.1).
RefSeq mRNA
See reference mRNA sequence for the CYB5R3 gene (NM_001171661.1).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the CYB5R3 gene.

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NP_001165132 [Domain Mapping of Disease Mut...]
NP_001165132
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents [ExactAntigen/Labome]
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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