Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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