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PC c.2229G>C ;(p.M743I)
Variant ID: 11-66618389-C-G
NM_001040716.1(
PC
):c.2229G>C;(p.M743I)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: PC: M743I
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
A symmetrical tetramer for S. aureus pyruvate carboxylase in complex with coenzyme A.
Structure (London, England : 1993)
Yu, Linda P C LP; Xiang, Song S; Lasso, Gorka G; Gil, David D; Valle, Mikel M; Tong, Liang L
Publication Date: 2009-06-10
Variant appearance in text: PC: M743I
PubMed Link:
19523900
Variant Present in the following documents:
Main text
View BVdb publication page
Structure, mechanism and regulation of pyruvate carboxylase.
The Biochemical Journal
Jitrapakdee, Sarawut S; St Maurice, Martin M; Rayment, Ivan I; Cleland, W Wallace WW; Wallace, John C JC; Attwood, Paul V PV
Publication Date: 2008-08-01
Variant appearance in text: PC: M743I
PubMed Link:
18613815
Variant Present in the following documents:
Main text
View BVdb publication page
Transcarboxylase 5S structures: assembly and catalytic mechanism of a multienzyme complex subunit.
The Embo Journal
Hall, Pamela R PR; Zheng, Run R; Antony, Lizamma L; Pusztai-Carey, Marianne M; Carey, Paul R PR; Yee, Vivien C VC
Publication Date: 2004-09-15
Variant appearance in text: PC: M743I
PubMed Link:
15329673
Variant Present in the following documents:
Main text
View BVdb publication page