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PC c.1217G>T ;(p.R406L)
Variant ID: 11-66631396-C-A
NM_001040716.1(
PC
):c.1217G>T;(p.R406L)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PC: R406L
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page
Molecular basis for sterol transport by StART-like lipid transfer domains.
The Embo Journal
Horenkamp, Florian A FA; Valverde, Diana P DP; Nunnari, Jodi J; Reinisch, Karin M KM
Publication Date: 2018-03-15
Variant appearance in text: PC: R406L
PubMed Link:
29467216
Variant Present in the following documents:
Main text
View BVdb publication page