PALB2 c.1881G>A ;(p.V627=)

Variant ID: 16-23641594-C-T

NM_024675.3(PALB2):c.1881G>A;(p.V627=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: N/A
PubMed Link: 30287823
Variant Present in the following documents:
View BVdb publication page



m6ASNP: a tool for annotating genetic variants by m6A function.

Gigascience
Jiang, Shuai S; Xie, Yubin Y; He, Zhihao Z; Zhang, Ya Y; Zhao, Yuli Y; Chen, Li L; Zheng, Yueyuan Y; Miao, Yanyan Y; Zuo, Zhixiang Z; Ren, Jian J
Publication Date: 2018-05-01

Variant appearance in text: rs139362268
PubMed Link: 29617790
Variant Present in the following documents:
  • Main text
  • giy035.pdf
  • giy035_giga-d-17-00348_revision_2.pdf
  • giy035_giga-d-17-00348_revision_1.pdf
  • giy035_giga-d-17-00348_revision_3.pdf
  • giy035_giga-d-17-00348_original_submission.pdf
View BVdb publication page



PALB2 mutations in familial breast and pancreatic cancer.

Familial Cancer
Hofstatter, Erin W EW; Domchek, Susan M SM; Miron, Alexander A; Garber, Judy J; Wang, Molin M; Componeschi, Kathryn K; Boghossian, Leigh L; Miron, Penelope L PL; Nathanson, Katherine L KL; Tung, Nadine N
Publication Date: 2011-06

Variant appearance in text: PALB2: V627V
PubMed Link: 21365267
Variant Present in the following documents:
  • Main text
View BVdb publication page