Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.V220A
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CDC73

NM_024529.5:p.V220A

Associated Papers

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Felício D et al.

Scientific Reports, 2025

41422144 (PubMed )
Supplement: 41598_2025_32288_MOESM2_ESM.docx

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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