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COL14A1 c.2061G>A ;(p.T687=)
Variant ID: 8-121239515-G-A
NM_021110.2(
COL14A1
):c.2061G>A;(p.T687=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Hepatology Communications
Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM
Publication Date: 2022-08
Variant appearance in text: COL14A1: T687T; rs61753754
PubMed Link:
35507738
Variant Present in the following documents:
HEP4-6-2132-s005.xlsx, sheet 1
View BVdb publication page
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: COL14A1: T687T
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 36
View BVdb publication page