KCNQ1 c.853_854delinsGC ;(p.K285A)

Variant ID: 11-2594148-AA-GC

NM_000218.2(KCNQ1):c.853_854delinsGC;(p.K285A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: K285A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page