FBN3 c.3976G>T ;(p.V1326F)

Variant ID: 19-8176640-C-A

NM_032447.3(FBN3):c.3976G>T;(p.V1326F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Missense polymorphisms potentially involved in mandibular prognathism.

Journal Of Oral Biology And Craniofacial Research
Kalmari, Amin A; Hosseinzadeh Colagar, Abasalt A; Heydari, Mohammadkazem M; Arash, Valiollah V
Publication Date: 2023

Variant appearance in text: rs12975322
PubMed Link: 37228872
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs12975322
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs12975322
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

Oncotarget
Wang, Yun Y; Garraoui, Abir A; Zeng, Liuzhi L; Lai, Mingying M; He, Fen F; Wang, Huaizhou H; Jiang, Chongyi C; Chen, Yulan Y; Dai, Lanlan L; Fan, Ning N; Yang, Huanming H; Zhang, Jianguo J; Liu, Xuyang X
Publication Date: 2017-10-17

Variant appearance in text: rs12975322
PubMed Link: 29156830
Variant Present in the following documents:
  • Main text
  • oncotarget-08-86718.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs12975322
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Cancer Science
Tode, Naoki N; Kikuchi, Toshiaki T; Sakakibara, Tomohiro T; Hirano, Taizou T; Inoue, Akira A; Ohkouchi, Shinya S; Tamada, Tsutomu T; Okazaki, Tatsuma T; Koarai, Akira A; Sugiura, Hisatoshi H; Niihori, Tetsuya T; Aoki, Yoko Y; Nakayama, Keiko K; Matsumoto, Kunio K; Matsubara, Yoichi Y; Yamamoto, Masayuki M; Watanabe, Akira A; Nukiwa, Toshihiro T; Ichinose, Masakazu M
Publication Date: 2017-06

Variant appearance in text: rs12975322
PubMed Link: 28294470
Variant Present in the following documents:
  • CAS-108-1263-s001.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs12975322
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: rs12975322
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.

Molecular Human Reproduction
Prodoehl, Mark J MJ; Hatzirodos, Nicholas N; Irving-Rodgers, Helen F HF; Zhao, Zhen Z ZZ; Painter, Jodie N JN; Hickey, Theresa E TE; Gibson, Mark A MA; Rainey, William E WE; Carr, Bruce R BR; Mason, Helen D HD; Norman, Robert J RJ; Montgomery, Grant W GW; Rodgers, Raymond J RJ
Publication Date: 2009-12

Variant appearance in text: rs12975322
PubMed Link: 19692420
Variant Present in the following documents:
  • Main text
  • gap072.pdf
View BVdb publication page