Variant ID: 1-55509601-TG-AT

NM_174936.3(PCSK9):c.293_294delinsAT;(p.Leu98His)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A generic approach to engineer antibody pH-switches using combinatorial histidine scanning libraries and yeast display.

Mabs
C Schröter, R Günther, L Rhiel, S Becker, L Toleikis, A Doerner, J Becker, A Schönemann, D Nasu, B Neuteboom, H Kolmar, B Hock
Publication Date: 2015

Variant appearance in text: PCSK9: L98H
PubMed Link: 25523975
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.293_294delinsAT p.Leu98His missense_variant 2/12 -
ENST00000452118.2 c.293_294delinsAT p.Leu98His missense_variant 2/6 -
ENST00000543384.1 c.-78+3525_-78+3526delinsAT - intron_variant - 1/9
NM_174936.4 c.293_294delinsAT p.Leu98His missense_variant 2/12 -
NR_110451.1 n.182+3525_182+3526delinsAT - intron_variant,non_coding_transcript_variant - 1/9