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UPB1 c.371C>A ;(p.P124H)
Variant ID: 22-24906723-C-A
NM_016327.2(
UPB1
):c.371C>A;(p.P124H)
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:
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: UPB1: P124H
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page