KCNK1 c.682_684delinsTTT ;(p.L228F)

Variant ID: 1-233802667-CTG-TTT

NM_002245.3(KCNK1):c.682_684delinsTTT;(p.L228F)

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:

Selectivity filter instability dominates the low intrinsic activity of the TWIK-1 K2P K+ channel.

The Journal Of Biological Chemistry
Nematian-Ardestani, Ehsan E; Abd-Wahab, Firdaus F; Chatelain, Franck C FC; Sun, Han H; Schewe, Marcus M; Baukrowitz, Thomas T; Tucker, Stephen J SJ
Publication Date: 2020-01-10

Variant appearance in text: TWIK-1: L228F
PubMed Link: 31806709
Variant Present in the following documents:
  • Main text
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