BBS2 c.218A>T ;(p.Q73L)

Variant ID: 16-56548492-T-A

NM_031885.3(BBS2):c.218A>T;(p.Q73L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A recombinant BBSome core complex and how it interacts with ciliary cargo.

Elife
Klink, Björn Udo BU; Zent, Eldar E; Juneja, Puneet P; Kuhlee, Anne A; Raunser, Stefan S; Wittinghofer, Alfred A
Publication Date: 2017-11-15

Variant appearance in text: BBS: Q73L
PubMed Link: 29168691
Variant Present in the following documents:
  • Main text
  • elife-27434.pdf
View BVdb publication page



Small GTPase Arl6 controls RH30 rhabdomyosarcoma cell growth through ciliogenesis and Hedgehog signaling.

Cell & Bioscience
Liu, Xiaotong X; Shen, Qiuhong Q; Yu, Tingting T; Huang, Huijie H; Zhang, Ziyu Z; Ding, Jie J; Tang, Ying Y; Xu, Ning N; Yue, Shen S
Publication Date: 2016

Variant appearance in text: BBS: Q73L
PubMed Link: 27999656
Variant Present in the following documents:
  • Main text
  • 13578_2016_Article_126.pdf
View BVdb publication page



Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Human Molecular Genetics
Su, Xuefeng X; Driscoll, Kaitlin K; Yao, Gang G; Raed, Anas A; Wu, Maoqing M; Beales, Philip L PL; Zhou, Jing J
Publication Date: 2014-10-15

Variant appearance in text: BBS: Q73L
PubMed Link: 24939912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qihong Q; Nishimura, Darryl D; Seo, Seongjin S; Vogel, Tim T; Morgan, Donald A DA; Searby, Charles C; Bugge, Kevin K; Stone, Edwin M EM; Rahmouni, Kamal K; Sheffield, Val C VC
Publication Date: 2011-12-20

Variant appearance in text: BBS: Q73L
PubMed Link: 22139371
Variant Present in the following documents:
  • Main text
View BVdb publication page



The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.

Cell
Jin, Hua H; White, Susan Roehl SR; Shida, Toshinobu T; Schulz, Stefan S; Aguiar, Mike M; Gygi, Steven P SP; Bazan, J Fernando JF; Nachury, Maxence V MV
Publication Date: 2010-06-25

Variant appearance in text: BBS: Q73L
PubMed Link: 20603001
Variant Present in the following documents:
  • Main text
View BVdb publication page