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SCN5A c.2090G>A ;(p.W697*)
Variant ID: 3-38639392-C-T
NM_000335.4(
SCN5A
):c.2090G>A;(p.W697*)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10
Variant appearance in text: SCN5A: W697X
PubMed Link:
35538087
Variant Present in the following documents:
41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23
Variant appearance in text: SCN5A: W697X
PubMed Link:
35197475
Variant Present in the following documents:
41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
The Mechanism of Ajmaline and Thus Brugada Syndrome: Not Only the Sodium Channel!
Frontiers In Cardiovascular Medicine
Monasky, Michelle M MM; Micaglio, Emanuele E; D'Imperio, Sara S; Pappone, Carlo C
Publication Date: 2021
Variant appearance in text: SCN5A: W697X
PubMed Link:
35004896
Variant Present in the following documents:
fcvm-08-782596.pdf
View BVdb publication page
Brugada Syndrome: Warning of a Systemic Condition?
Frontiers In Cardiovascular Medicine
D'Imperio, Sara S; Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Anastasia, Luigi L; Pappone, Carlo C
Publication Date: 2021
Variant appearance in text: SCN5A: W697X
PubMed Link:
34722688
Variant Present in the following documents:
fcvm-08-771349.pdf
View BVdb publication page
Brugada Syndrome: Oligogenic or Mendelian Disease?
International Journal Of Molecular Sciences
Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Pappone, Carlo C
Publication Date: 2020-03-01
Variant appearance in text: SCN5A: W697X
PubMed Link:
32121523
Variant Present in the following documents:
ijms-21-01687.pdf
View BVdb publication page