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KMT2D c.7769C>A ;(p.S2590*)
Variant ID: 12-49433784-G-T
NM_003482.3(
KMT2D
):c.7769C>A;(p.S2590*)
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:
Integrative proteogenomic characterization of early esophageal cancer.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25
Variant appearance in text: KMT2D: S2590X
PubMed Link:
36966136
Variant Present in the following documents:
41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).
Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Augert, Arnaud A; Zhang, Qing Q; Bates, Breanna B; Cui, Min M; Wang, Xiaofei X; Wildey, Gary G; Dowlati, Afshin A; MacPherson, David D
Publication Date: 2017-04
Variant appearance in text: KMT2D: S2590X
PubMed Link:
28007623
Variant Present in the following documents:
Main text
View BVdb publication page