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PC c.409_410delinsGC ;(p.R137A)
Variant ID: 11-66638863-CG-GC
NM_001040716.1(
PC
):c.409_410delinsGC;(p.R137A)
This variant was identified in 5 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: R137A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Phosphatidylglyerol Lipid Binding at the Active Site of an Intramembrane Protease.
The Journal Of Membrane Biology
Bondar, Ana-Nicoleta AN
Publication Date: 2020-12
Variant appearance in text: PC: R137A
PubMed Link:
33210155
Variant Present in the following documents:
Main text
232_2020_Article_152.pdf
View BVdb publication page
It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.
Plos One
Moccand, Cyril C; Kaufmann, Markus M; Fitzpatrick, Teresa B TB
Publication Date: 2011-01-21
Variant appearance in text: PC: R137A
PubMed Link:
21283685
Variant Present in the following documents:
pone.0016042.pdf
View BVdb publication page
Rhomboid protease dynamics and lipid interactions.
Structure (London, England : 1993)
Bondar, Ana-Nicoleta AN; del Val, Coral C; White, Stephen H SH
Publication Date: 2009-03-11
Variant appearance in text: PC: R137A
PubMed Link:
19278654
Variant Present in the following documents:
Main text
View BVdb publication page
Membrane association and functional regulation of Sec3 by phospholipids and Cdc42.
The Journal Of Cell Biology
Zhang, Xiaoyu X; Orlando, Kelly K; He, Bing B; Xi, Fengong F; Zhang, Jian J; Zajac, Allison A; Guo, Wei W
Publication Date: 2008-01-14
Variant appearance in text: PC: R137A
PubMed Link:
18195105
Variant Present in the following documents:
jcb1800145.pdf
View BVdb publication page