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NF1 c.3973A>G ;(p.R1325G)
Variant ID: 17-29563038-A-G
NM_001042492.2(
NF1
):c.3973A>G;(p.R1325G)
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:
Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.
Cold Spring Harbor Perspectives In Medicine
Scheffzek, Klaus K; Shivalingaiah, Giridhar G
Publication Date: 2019-03-01
Variant appearance in text: NF1: R1325G
PubMed Link:
30104198
Variant Present in the following documents:
Main text
View BVdb publication page
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06
Variant appearance in text: NF1: R1325G
PubMed Link:
24803665
Variant Present in the following documents:
MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page