KCNH2 c.805_807delinsTGT ;(p.R269C)

Variant ID: 7-150655256-CCG-ACA

NM_000238.3(KCNH2):c.805_807delinsTGT;(p.R269C)

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:

Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations.

Plos One
Lopez-Rodriguez, Angelica A; Holmgren, Miguel M
Publication Date: 2012

Variant appearance in text: HERG: R269C
PubMed Link: 23082193
Variant Present in the following documents:
  • Main text
  • pone.0047693.pdf
View BVdb publication page