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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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