FERM domain-containing protein 5 isoform 2 [Homo sapiens]

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De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. [Mov Disord. 2024]
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V, et al. Mov Disord. 2024 Jul; 39(7):1231-1236. Epub 2024 Apr 4.
Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma. [Int J Mol Sci. 2021]
Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.
Gaweł AM, Ratajczak M, Gajda E, Grzanka M, Paziewska A, Cieślicka M, Kulecka M, Oczko-Wojciechowska M, Godlewska M. Int J Mol Sci. 2021 Jun 23; 22(13). Epub 2021 Jun 23.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. [Am J Hum Genet. 2022]
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, et al. Am J Hum Genet. 2022 Oct 6; 109(10):1932-1943.

RefSeq mRNA
See reference mRNA sequence for the FRMD5 gene (NM_032892.5).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the FRMD5 gene.

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NP_116281 [Domain Mapping of Disease Mut...]
NP_116281
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
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Homo sapiens mRNA for small calcium-binding mitochondrial carrier 1 (SCAMC-1 gen...
Homo sapiens mRNA for small calcium-binding mitochondrial carrier 1 (SCAMC-1 gene)
gi|48290288|emb|AJ619987.1|

Nucleotide
Sequence 3892 from Patent EP1396543
Sequence 3892 from Patent EP1396543
gi|45503659|emb|CQ783752.1||pat|EP| 43|3892

Nucleotide
Sequence 55 from Patent WO03000901
Sequence 55 from Patent WO03000901
gi|38502056|emb|AX803393.1||pat|WO| 901|55

Nucleotide

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Protein