Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.Y414C
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FAM111A

NM_001312909.2:p.Y414C

Associated Papers

Confirmation of BIK and SAMHD1 as Prostate Cancer Susceptibility Genes.

Pavlovich CP et al.

The Prostate, 2025

40825105 (PubMed )
Supplement: PROS-85-1556-s001.xlsx › sTable2

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Li D et al.

Jci Insight, 2025

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."