GAA c.884A>G ;(p.H295R)

Variant ID: 17-78081624-A-G

NM_000152.3(GAA):c.884A>G;(p.H295R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 884A>G; H295R
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 884A>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Cilia
Oud, Machteld M MM; Bonnard, Carine C; Mans, Dorus A DA; Altunoglu, Umut U; Tohari, Sumanty S; Ng, Alvin Yu Jin AYJ; Eskin, Ascia A; Lee, Hane H; Rupar, C Anthony CA; de Wagenaar, Nathalie P NP; Wu, Ka Man KM; Lahiry, Piya P; Pazour, Gregory J GJ; Nelson, Stanley F SF; Hegele, Robert A RA; Roepman, Ronald R; Kayserili, Hülya H; Venkatesh, Byrappa B; Siu, Victoria M VM; Reversade, Bruno B; Arts, Heleen H HH
Publication Date: 2016

Variant appearance in text: GAA: 884A>G
PubMed Link: 27069622
Variant Present in the following documents:
  • 13630_2016_29_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Angiotensin II triggers expression of the adrenal gland zona glomerulosa-specific 3β-hydroxysteroid dehydrogenase isoenzyme through de novo protein synthesis of the orphan nuclear receptors NGFIB and NURR1.

Molecular And Cellular Biology
Ota, Takumi T; Doi, Masao M; Yamazaki, Fumiyoshi F; Yarimizu, Daisuke D; Okada, Kazuki K; Murai, Iori I; Hayashi, Hida H; Kunisue, Sumihiro S; Nakagawa, Yuuki Y; Okamura, Hitoshi H
Publication Date: 2014-10

Variant appearance in text: GAA: H295R
PubMed Link: 25092869
Variant Present in the following documents:
  • Main text
View BVdb publication page