Bibliome.ai browser hg19
Search
About
Stats
FAQ
KMT2D c.5247T>A ;(p.D1749E)
Variant ID: 12-49437723-A-T
NM_003482.3(
KMT2D
):c.5247T>A;(p.D1749E)
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:
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: Asp1749Glu
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: Asp1749Glu
PubMed Link:
28415711
Variant Present in the following documents:
Main text
oncotarget-08-31133.pdf
View BVdb publication page