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PKP1 c.562_563delinsGT ;(p.S188V)
Variant ID: 1-201282549-AG-GT
NM_001005337.2(
PKP1
):c.562_563delinsGT;(p.S188V)
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:
An S188V mutation alters substrate specificity of non-stereospecific α-haloalkanoic acid dehalogenase E (DehE).
Plos One
Hamid, Azzmer Azzar Abdul AA; Hamid, Tengku Haziyamin Tengku Abdul TH; Wahab, Roswanira Abdul RA; Omar, Mohd Shahir Shamsir MS; Huyop, Fahrul F
Publication Date: 2015
Variant appearance in text: B6P: S188V
PubMed Link:
25816329
Variant Present in the following documents:
Main text
pone.0121687.pdf
View BVdb publication page