FBN1 c.3382G>A ;(p.V1128I)

Variant ID: 15-48779590-C-T

NM_000138.4(FBN1):c.3382G>A;(p.V1128I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: FBN1: 3382G>A; Val1128Ile
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: V1128I
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics
Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-BĂ©roud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M
Publication Date: 2006-10

Variant appearance in text: FBN1: V1128I
PubMed Link: 16571647
Variant Present in the following documents:
  • Main text
View BVdb publication page