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SCN5A c.234G>T ;(p.E78D)
Variant ID: 3-38674565-C-A
NM_000335.4(
SCN5A
):c.234G>T;(p.E78D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08
Variant appearance in text: SCN5A: 234G>T; E78D
PubMed Link:
29937994
Variant Present in the following documents:
oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: LQT3: E78D
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page