KCNH2 c.1025A>C ;(p.D342A)

Variant ID: 7-150654482-T-G

NM_000238.3(KCNH2):c.1025A>C;(p.D342A)

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:

Regulation of Eag1 gating by its intracellular domains.

Elife
Whicher, Jonathan R JR; MacKinnon, Roderick R
Publication Date: 2019-09-06

Variant appearance in text: Kv11.1: D342A
PubMed Link: 31490124
Variant Present in the following documents:
  • elife-49188.pdf
View BVdb publication page


Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs199472889
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page