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PSEN1 c.139C>G ;(p.P47A)
Variant ID: 14-73637556-C-G
NM_000021.3(
PSEN1
):c.139C>G;(p.P47A)
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:
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Genes
Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL
Publication Date: 2022-03-18
Variant appearance in text: PS1: 139C>G
PubMed Link:
35328090
Variant Present in the following documents:
genes-13-00537.pdf
View BVdb publication page
The Flemmingsome reveals an ESCRT-to-membrane coupling via ALIX/syntenin/syndecan-4 required for completion of cytokinesis.
Nature Communications
Addi, Cyril C; Presle, Adrien A; Frémont, Stéphane S; Cuvelier, Frédérique F; Rocancourt, Murielle M; Milin, Florine F; Schmutz, Sandrine S; Chamot-Rooke, Julia J; Douché, Thibaut T; Duchateau, Magalie M; Giai Gianetto, Quentin Q; Salles, Audrey A; Ménager, Hervé H; Matondo, Mariette M; Zimmermann, Pascale P; Gupta-Rossi, Neetu N; Echard, Arnaud A
Publication Date: 2020-04-22
Variant appearance in text: PS1: P47A
PubMed Link:
32321914
Variant Present in the following documents:
Main text
View BVdb publication page