Bibliome.ai browser hg19
Search
About
Stats
FAQ
KMT2D c.16154C>T ;(p.S5385L)
Variant ID: 12-49416557-G-A
NM_003482.3(
KMT2D
):c.16154C>T;(p.S5385L)
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:
p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.
Iscience
Jung, Jewon J; Liao, Han H; Coker, Shannon A SA; Liang, Hong H; Hancock, John F JF; Denicourt, Catherine C; Venkatachalam, Kartik K
Publication Date: 2021-07-23
Variant appearance in text: KMT2D: S5385L
PubMed Link:
34222845
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page
Cas9 activates the p53 pathway and selects for p53-inactivating mutations.
Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07
Variant appearance in text: KMT2D: 16154C>T; S5385L
PubMed Link:
32424350
Variant Present in the following documents:
NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page