Variant ID: 1-201282549-AG-GT

NM_000299.3(PKP1):c.562_563delinsGT;(p.Ser188Val)

This variant was identified in 1 publication




Publications:


An S188V mutation alters substrate specificity of non-stereospecific α-haloalkanoic acid dehalogenase E (DehE).

Plos One
AA Hamid, TH Hamid, RA Wahab, MS Omar, F Huyop
Publication Date: 2015

Variant appearance in text: B6P: S188V
PMID: 25816329
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.562_563delinsGT p.Ser188Val missense_variant 3/15 -
ENST00000352845.3 c.562_563delinsGT p.Ser188Val missense_variant 3/14 -
ENST00000367324.3 c.562_563delinsGT p.Ser188Val missense_variant 3/14 -
NM_000299.3 c.562_563delinsGT p.Ser188Val missense_variant 3/15 -
NM_001005337.3 c.562_563delinsGT p.Ser188Val missense_variant 3/14 -