BARD1 c.1375C>T ;(p.H459Y)

Variant ID: 2-215633976-G-A

NM_000465.2(BARD1):c.1375C>T;(p.H459Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: BARD1: 1375C>T; H459Y
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: BARD1: 1375C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: H459Y
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: H459Y
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
View BVdb publication page