GC c.1024del ;(p.V342Sfs*9)

Variant ID: 4-72622439-AC-A

NM_000583.3(GC):c.1024del;(p.V342Sfs*9)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23

Variant appearance in text: GC: 1024delG; Val342fs
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.

Annals Of Translational Medicine
Zhang, Guochun G; Wang, Yulei Y; Chen, Bo B; Guo, Liping L; Cao, Li L; Ren, Chongyang C; Wen, Lingzhu L; Li, Kai K; Jia, Minghan M; Li, Cheukfai C; Mok, Hsiaopei H; Chen, Xiaoqing X; Wei, Guangnan G; Lin, Jiali J; Zhang, Zhou Z; Hou, Ting T; Han-Zhang, Han H; Liu, Chenglin C; Liu, Hao H; Liu, Jing J; Balch, Charles M CM; Meric-Bernstam, Funda F; Liao, Ning N
Publication Date: 2019-04

Variant appearance in text: GC: 1024del
PubMed Link: 31168460
Variant Present in the following documents:
  • Main text
View BVdb publication page