EHMT1 c.905A>G ;(p.K302R)

Variant ID: 9-140637904-A-G

NM_024757.4(EHMT1):c.905A>G;(p.K302R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: EHMT1: 905A>G; K302R
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs565065320
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: EHMT1: 905A>G; Lys302Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



G9a-mediated methylation of ERĪ± links the PHF20/MOF histone acetyltransferase complex to hormonal gene expression.

Nature Communications
Zhang, Xi X; Peng, Danni D; Xi, Yuanxin Y; Yuan, Chao C; Sagum, Cari A CA; Klein, Brianna J BJ; Tanaka, Kaori K; Wen, Hong H; Kutateladze, Tatiana G TG; Li, Wei W; Bedford, Mark T MT; Shi, Xiaobing X
Publication Date: 2016-03-10

Variant appearance in text: EHMT1: K302R
PubMed Link: 26960573
Variant Present in the following documents:
  • ncomms10810.pdf
View BVdb publication page