Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y1863*
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BRCA1

NM_007294.4:p.Y1863*

Associated Papers

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Nepomuceno TC et al.

Scientific Reports, 2022

Classification of BRCA1 missense variants of unknown clinical significance.

Phelan CM et al.

Journal of Medical Genetics, 2005

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein.

Worley T et al.

Cancer Biology & Therapy, 0

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