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SCN1A c.2770G>A ;(p.A924T)
Variant ID: 2-166894462-C-T
NM_001165963.1(
SCN1A
):c.2770G>A;(p.A924T)
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:
Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.
Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26
Variant appearance in text: SCN1A: A924T
PubMed Link:
35078970
Variant Present in the following documents:
41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.
Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26
Variant appearance in text: SCN1A: A924T
PubMed Link:
35078970
Variant Present in the following documents:
41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
Tracing the evolution of aneuploid cancers by multiregional sequencing with CRUST.
Briefings In Bioinformatics
Chattopadhyay, Subhayan S; Karlsson, Jenny J; Valind, Anders A; Andersson, Natalie N; Gisselsson, David D
Publication Date: 2021-11-05
Variant appearance in text: SCN1A: A924T
PubMed Link:
34343239
Variant Present in the following documents:
supplementary_table_2_bbab292.xlsx, sheet 6
View BVdb publication page
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01
Variant appearance in text: SCN1A: 2770G>A; Ala924Thr
PubMed Link:
30937429
Variant Present in the following documents:
famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SCN1A: A924T
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page