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KCNH2 c.1607C>T ;(p.A536V)
Variant ID: 7-150648874-G-A
NM_000238.3(
KCNH2
):c.1607C>T;(p.A536V)
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:
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: KCNH2: A536V
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page
The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.
Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07
Variant appearance in text: Kv11.1: A536V
PubMed Link:
29117522
Variant Present in the following documents:
Main text
View BVdb publication page