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EGF c.287A>C ;(p.Q96P)
Variant ID: 4-110862261-A-C
NM_001963.4(
EGF
):c.287A>C;(p.Q96P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
In silico analysis of missense mutations in exons 1-5 of the F9 gene that cause hemophilia B.
Bmc Bioinformatics
Meléndez-Aranda, Lennon L; Jaloma-Cruz, Ana Rebeca AR; Pastor, Nina N; Romero-Prado, Marina María de Jesús MMJ
Publication Date: 2019-06-28
Variant appearance in text: EGF: Gln96Pro
PubMed Link:
31253089
Variant Present in the following documents:
Main text
12859_2019_Article_2919.pdf
View BVdb publication page
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: EGF: Q96P
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page