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.




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