FBN1 c.401G>C ;(p.C134S)

Variant ID: 15-48892377-C-G

NM_000138.4(FBN1):c.401G>C;(p.C134S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: FBN1: 401G>C; C134S
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cysteine coordination of Pb(II) is involved in the PbrR-dependent activation of the lead-resistance promoter, PpbrA, from Cupriavidus metallidurans CH34.

Bmc Microbiology
Hobman, Jon L JL; Julian, Daniel J DJ; Brown, Nigel L NL
Publication Date: 2012-06-18

Variant appearance in text: MFS1: C134S
PubMed Link: 22708803
Variant Present in the following documents:
  • Main text
  • 1471-2180-12-109.pdf
View BVdb publication page