KMT2D c.4618G>A ;(p.E1540K)

Variant ID: 12-49439923-C-T

NM_003482.3(KMT2D):c.4618G>A;(p.E1540K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2D: 4618G>A; Glu1540Lys
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2D: 4618G>A; Glu1540Lys
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Selective binding of the PHD6 finger of MLL4 to histone H4K16ac links MLL4 and MOF.

Nature Communications
Zhang, Yi Y; Jang, Younghoon Y; Lee, Ji-Eun JE; Ahn, JaeWoo J; Xu, Longxia L; Holden, Michael R MR; Cornett, Evan M EM; Krajewski, Krzysztof K; Klein, Brianna J BJ; Wang, Shu-Ping SP; Dou, Yali Y; Roeder, Robert G RG; Strahl, Brian D BD; Rothbart, Scott B SB; Shi, Xiaobing X; Ge, Kai K; Kutateladze, Tatiana G TG
Publication Date: 2019-05-24

Variant appearance in text: KMT2D: E1540K
PubMed Link: 31127101
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_10324.pdf
View BVdb publication page