KMT2D c.1896C>A ;(p.D632E)

Variant ID: 12-49445570-G-T

NM_003482.3(KMT2D):c.1896C>A;(p.D632E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology
Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ
Publication Date: 2022-06

Variant appearance in text: KMT2D: 1896C>A; D632E
PubMed Link: 35143042
Variant Present in the following documents:
  • PATH-257-239-s001.xlsx, sheet 2
View BVdb publication page



Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.

Jto Clinical And Research Reports
Higuchi, Rumi R; Goto, Taichiro T; Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Oyama, Toshio T; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2021-12

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 34877557
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



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: KMT2D: 1896C>A; Asp632Glu
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: KMT2D: 1896C>A; Asp632Glu
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Implications of Noncoding Indels in the Surfactant-Encoding Genes in Lung Cancer.

Cancers
Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Goto, Taichiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Higuchi, Rumi R; Otake, Sotaro S; Amemiya, Kenji K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-04-17

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 30999697
Variant Present in the following documents:
  • cancers-11-00552.pdf
View BVdb publication page



Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.

Oncotarget
Goto, Taichiro T; Hirotsu, Yosuke Y; Mochizuki, Hitoshi H; Nakagomi, Takahiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Oyama, Toshio T; Amemiya, Kenji K; Okimoto, Kenichiro K; Omata, Masao M
Publication Date: 2017-05-09

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 28415711
Variant Present in the following documents:
  • Main text
  • oncotarget-08-31133.pdf
View BVdb publication page