FBN1 c.169A>G ;(p.N57D)

Variant ID: 15-48905285-T-C

NM_000138.4(FBN1):c.169A>G;(p.N57D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: FBN1: 169A>G; N57D
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics
Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP
Publication Date: 2014-05

Variant appearance in text: FBN1: N57D
PubMed Link: 24686850
Variant Present in the following documents:
  • NIHMS573166-supplement-9.xlsx, sheet 6
View BVdb publication page



Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.

Structure (London, England : 1993)
Yadin, David A DA; Robertson, Ian B IB; McNaught-Davis, Joanne J; Evans, Paul P; Stoddart, David D; Handford, Penny A PA; Jensen, Sacha A SA; Redfield, Christina C
Publication Date: 2013-10-08

Variant appearance in text: FBN1: N57D
PubMed Link: 24035709
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page