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KMT2C c.5065G>A ;(p.E1689K)
Variant ID: 7-151882660-C-T
NM_170606.2(
KMT2C
):c.5065G>A;(p.E1689K)
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:
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07
Variant appearance in text: KMT2C: 5065G>A; Glu1689Lys
PubMed Link:
32292574
Variant Present in the following documents:
oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page
Structural basis of molecular recognition of helical histone H3 tail by PHD finger domains.
The Biochemical Journal
Bortoluzzi, Alessio A; Amato, Anastasia A; Lucas, Xavier X; Blank, Manuel M; Ciulli, Alessio A
Publication Date: 2017-05-04
Variant appearance in text: MLL3: E1689K
PubMed Link:
28341809
Variant Present in the following documents:
Main text
BCJ-2016-1053.pdf
View BVdb publication page