FBN1 c.6659G>A ;(p.R2220Q)

Variant ID: 15-48725143-C-T

NM_000138.4(FBN1):c.6659G>A;(p.R2220Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: FBN1: 6659G>A; Arg2220Gln
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.

Bmc Cardiovascular Disorders
Ma, Mingjia M; Li, Zongzhe Z; Mohamed, Mohamed Abdulkadir MA; Liu, Ligang L; Wei, Xiang X
Publication Date: 2021-08-30

Variant appearance in text: FBN1: 6659G>A; Arg2220Gln
PubMed Link: 34461831
Variant Present in the following documents:
  • 12872_2021_2215_MOESM1_ESM.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: FBN1: 6659G>A; R2220Q
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors.

Hepatology Communications
Blumer, Tanja T; Fofana, Isabel I; Matter, Matthias S MS; Wang, Xueya X; Montazeri, Hesam H; Calabrese, Diego D; Coto-Llerena, Mairene M; Boldanova, Tujana T; Nuciforo, Sandro S; Kancherla, Venkatesh V; Tornillo, Luigi L; Piscuoglio, Salvatore S; Wieland, Stefan S; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH
Publication Date: 2019-07

Variant appearance in text: FBN1: 6659G>A; Arg2220Gln
PubMed Link: 31334445
Variant Present in the following documents:
  • HEP4-3-971-s003.xlsx, sheet 1
View BVdb publication page