GC c.1006G>C ;(p.D336H)

Variant ID: 4-72622457-C-G

NM_000583.3(GC):c.1006G>C;(p.D336H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 1006G>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.

Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12

Variant appearance in text: GC: D336H
PubMed Link: 34923763
Variant Present in the following documents:
  • CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: GC: 1006G>C; Asp336His
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma.

Scientific Reports
Haque, Md Hakimul MH; Gopalan, Vinod V; Chan, Kwok-Wah KW; Shiddiky, Muhammad J A MJ; Smith, Robert Anthony RA; Lam, Alfred King-Yin AK
Publication Date: 2016-07-04

Variant appearance in text: GC: Asp336His
PubMed Link: 27373372
Variant Present in the following documents:
  • Main text
View BVdb publication page