MUC16 c.43417G>A ;(p.G14473S)

Variant ID: 19-8961960-C-T

NM_024690.2(MUC16):c.43417G>A;(p.G14473S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: MUC16: G14473S
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Single-cell transcriptomic analysis suggests two molecularly subtypes of intrahepatic cholangiocarcinoma.

Nature Communications
Song, Guohe G; Shi, Yang Y; Meng, Lu L; Ma, Jiaqiang J; Huang, Siyuan S; Zhang, Juan J; Wu, Yingcheng Y; Li, Jiaxin J; Lin, Youpei Y; Yang, Shuaixi S; Rao, Dongning D; Cheng, Yifei Y; Lin, Jian J; Ji, Shuyi S; Liu, Yuming Y; Jiang, Shan S; Wang, Xiaoliang X; Zhang, Shu S; Ke, Aiwu A; Wang, Xiaoying X; Cao, Ya Y; Ji, Yuan Y; Zhou, Jian J; Fan, Jia J; Zhang, Xiaoming X; Xi, Ruibin R; Gao, Qiang Q
Publication Date: 2022-03-28

Variant appearance in text: MUC16: 43417G>A; G14473S
PubMed Link: 35347134
Variant Present in the following documents:
  • 41467_2022_29164_MOESM13_ESM.xlsx, sheet 9
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MUC16: G14473S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page