BARD1 c.1492C>A ;(p.L498I)

Variant ID: 2-215632282-G-T

NM_000465.2(BARD1):c.1492C>A;(p.L498I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

Nature Cell Biology
Nakamura, Kyosuke K; Saredi, Giulia G; Becker, Jordan R JR; Foster, Benjamin M BM; Nguyen, Nhuong V NV; Beyer, Tracey E TE; Cesa, Laura C LC; Faull, Peter A PA; Lukauskas, Saulius S; Frimurer, Thomas T; Chapman, J Ross JR; Bartke, Till T; Groth, Anja A
Publication Date: 2019-03

Variant appearance in text: BARD1: L498I
PubMed Link: 30804502
Variant Present in the following documents:
  • Main text
  • emss-81307.pdf
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: BARD1: L498I
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
View BVdb publication page