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ACVRL1 c.916G>C ;(p.A306P)
Variant ID: 12-52309152-G-C
NM_000020.2(
ACVRL1
):c.916G>C;(p.A306P)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: HHT2: A306P
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: ACVRL1: A306P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: ACVRL1: A306P
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 4
View BVdb publication page
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09
Variant appearance in text: ACVRL1: A306P
PubMed Link:
16690726
Variant Present in the following documents:
Main text
View BVdb publication page
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02
Variant appearance in text:
PubMed Link:
15879500
Variant Present in the following documents:
Main text
View BVdb publication page