PCSK7 c.304G>C ;(p.A102P)

Variant ID: 11-117100257-C-G

NM_004716.2(PCSK7):c.304G>C;(p.A102P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mouse Models of Human Proprotein Convertase Insufficiency.

Endocrine Reviews
Shakya, Manita M; Lindberg, Iris I
Publication Date: 2021-05-25

Variant appearance in text: rs11542139
PubMed Link: 33382413
Variant Present in the following documents:
  • Main text
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: rs11542139
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A structural mechanism for MscS gating in lipid bilayers.

Science (New York, N.Y.)
Vásquez, Valeria V; Sotomayor, Marcos M; Cordero-Morales, Julio J; Schulten, Klaus K; Perozo, Eduardo E
Publication Date: 2008-08-29

Variant appearance in text: LPC: A102P
PubMed Link: 18755978
Variant Present in the following documents:
  • Main text
View BVdb publication page