SMN1 c.358_359delinsGC ;(p.R120A)

Variant ID: 5-70238269-AG-GC

NM_000344.3(SMN1):c.358_359delinsGC;(p.R120A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


How Functional Lipids Affect the Structure and Gating of Mechanosensitive MscS-like Channels.

International Journal Of Molecular Sciences
Flegler, Vanessa Judith VJ; Rasmussen, Tim T; Böttcher, Bettina B
Publication Date: 2022-12-01

Variant appearance in text: SMA: R120A
PubMed Link: 36499396
Variant Present in the following documents:
  • Main text
  • ijms-23-15071.pdf
View BVdb publication page



Flow-regulated endothelial S1P receptor-1 signaling sustains vascular development.

Developmental Cell
Jung, Bongnam B; Obinata, Hideru H; Galvani, Sylvain S; Mendelson, Karen K; Ding, Bi-sen BS; Skoura, Athanasia A; Kinzel, Bernd B; Brinkmann, Volker V; Rafii, Shahin S; Evans, Todd T; Hla, Timothy T
Publication Date: 2012-09-11

Variant appearance in text: SMA: R120A
PubMed Link: 22975328
Variant Present in the following documents:
  • Main text
View BVdb publication page