KMT2D c.4553A>C ;(p.D1518A)

Variant ID: 12-49440073-T-G

NM_003482.3(KMT2D):c.4553A>C;(p.D1518A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: D1518A
PubMed Link: 31127101
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_10324.pdf
View BVdb publication page



Structural insights into trans-histone regulation of H3K4 methylation by unique histone H4 binding of MLL3/4.

Nature Communications
Liu, Yanli Y; Qin, Su S; Chen, Tsai-Yu TY; Lei, Ming M; Dhar, Shilpa S SS; Ho, Jolene Caifeng JC; Dong, Aiping A; Loppnau, Peter P; Li, Yanjun Y; Lee, Min Gyu MG; Min, Jinrong J
Publication Date: 2019-01-03

Variant appearance in text: KMT2D: D1518A
PubMed Link: 30604749
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7906.pdf
View BVdb publication page