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.




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