EGR1 c.777G>C ;(p.Q259H)

Variant ID: 5-137802915-G-C

NM_001964.2(EGR1):c.777G>C;(p.Q259H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports
Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T
Publication Date: 2022-01-07

Variant appearance in text: 225: Q259H
PubMed Link: 34996979
Variant Present in the following documents:
  • 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: 225: Q259H
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications
Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H
Publication Date: 2020-04-24

Variant appearance in text: 225: 777G>C
PubMed Link: 32332722
Variant Present in the following documents:
  • 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page



Targeting DDR2 enhances tumor response to anti-PD-1 immunotherapy.

Science Advances
Tu, Megan M MM; Lee, Francis Y F FYF; Jones, Robert T RT; Kimball, Abigail K AK; Saravia, Elizabeth E; Graziano, Robert F RF; Coleman, Brianne B; Menard, Krista K; Yan, Jun J; Michaud, Erin E; Chang, Han H; Abdel-Hafiz, Hany A HA; Rozhok, Andrii I AI; Duex, Jason E JE; Agarwal, Neeraj N; Chauca-Diaz, Ana A; Johnson, Linda K LK; Ng, Terry L TL; Cambier, John C JC; Clambey, Eric T ET; Costello, James C JC; Korman, Alan J AJ; Theodorescu, Dan D
Publication Date: 2019-02

Variant appearance in text: 225: Gln259His
PubMed Link: 30801016
Variant Present in the following documents:
  • aav2437_Table_S1.xlsx, sheet 1
View BVdb publication page



Prevalent mutator genotype identified in fungal pathogen Candida glabrata promotes multi-drug resistance.

Nature Communications
Healey, Kelley R KR; Zhao, Yanan Y; Perez, Winder B WB; Lockhart, Shawn R SR; Sobel, Jack D JD; Farmakiotis, Dimitrios D; Kontoyiannis, Dimitrios P DP; Sanglard, Dominique D; Taj-Aldeen, Saad J SJ; Alexander, Barbara D BD; Jimenez-Ortigosa, Cristina C; Shor, Erika E; Perlin, David S DS
Publication Date: 2016-03-29

Variant appearance in text: 225: Q259H
PubMed Link: 27020939
Variant Present in the following documents:
  • Main text
  • ncomms11128.pdf
View BVdb publication page



De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One
Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB
Publication Date: 2016

Variant appearance in text: 225: Q259H
PubMed Link: 26964041
Variant Present in the following documents:
  • pone.0150944.s002.xls, sheet 1
View BVdb publication page