HERC2 c.12445G>A ;(p.A4149T)

Variant ID: 15-28377371-C-T

NM_004667.5(HERC2):c.12445G>A;(p.A4149T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: HERC2: 12445G>A; Ala4149Thr; rs781055487
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10

Variant appearance in text: HERC2: Ala4149Thr
PubMed Link: 33563892
Variant Present in the following documents:
  • 41392_2020_412_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Contiguous mutation syndrome in the era of high-throughput sequencing.

Molecular Genetics & Genomic Medicine
Langouët, Maéva M; Siquier-Pernet, Karine K; Sanquer, Sylvia S; Bole-Feysot, Christine C; Nitschke, Patrick P; Boddaert, Nathalie N; Munnich, Arnold A; Mancini, Grazia M S GM; Barouki, Robert R; Amiel, Jeanne J; Colleaux, Laurence L
Publication Date: 2015-05

Variant appearance in text: HERC2: 12445G>A; Ala4149Thr
PubMed Link: 26029708
Variant Present in the following documents:
  • Main text
  • mgg30003-0215.pdf
View BVdb publication page