Homo sapiens FA complementation group A (FANCA), transcript variant 1, - Nucleotide

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FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia. [Blood Adv. 2024]
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Ramanagoudr-Bhojappa R, Tryon R, Lach FP, Donovan FX, Maxwell R, Rosenberg A, MacMillan ML, Wagner JE, Auerbach AD, Smogorzewska A, et al. Blood Adv. 2024 Feb 27; 8(4):899-908.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability. [Cell. 2023]
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, et al. Cell. 2023 Oct 26; 186(22):4898-4919.e25. Epub 2023 Oct 11.
BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype. [EBioMedicine. 2023]
BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype.
Fettke H, Dai C, Kwan EM, Zheng T, Du P, Ng N, Bukczynska P, Docanto M, Kostos L, Foroughi S, et al. EBioMedicine. 2023 Sep; 95:104738. Epub 2023 Aug 5.

RefSeq protein product
See the reference protein sequence for Fanconi anemia group A protein isoform a (NP_000126.2).

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Nucleotide