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