NF1 c.353G>C ;(p.C118S)

Variant ID: 17-29490268-G-C

NM_001042492.2(NF1):c.353G>C;(p.C118S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Site-specific monoubiquitination activates Ras by impeding GTPase-activating protein function.

Nature Structural & Molecular Biology
Baker, Rachael R; Lewis, Steven M SM; Sasaki, Atsuo T AT; Wilkerson, Emily M EM; Locasale, Jason W JW; Cantley, Lewis C LC; Kuhlman, Brian B; Dohlman, Henrik G HG; Campbell, Sharon L SL
Publication Date: 2013-01

Variant appearance in text: NF1: C118S
PubMed Link: 23178454
Variant Present in the following documents:
  • Main text
  • nihms411279.pdf
View BVdb publication page