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COMT c.112_113delinsGC ;(p.W38A)
Variant ID: 22-19950161-TG-GC
NM_000754.3(
COMT
):c.112_113delinsGC;(p.W38A)
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:
Effects of Active-Site Modification and Quaternary Structure on the Regioselectivity of Catechol-O-Methyltransferase.
Angewandte Chemie (International Ed. In English)
Law, Brian J C BJ; Bennett, Matthew R MR; Thompson, Mark L ML; Levy, Colin C; Shepherd, Sarah A SA; Leys, David D; Micklefield, Jason J
Publication Date: 2016-02-18
Variant appearance in text: COMT: W38A
PubMed Link:
26797714
Variant Present in the following documents:
ANIE-55-2683-s001.pdf
View BVdb publication page
Enzymatic methyl transfer: role of an active site residue in generating active site compaction that correlates with catalytic efficiency.
Journal Of The American Chemical Society
Zhang, Jianyu J; Klinman, Judith P JP
Publication Date: 2011-11-02
Variant appearance in text: COMT: W38A
PubMed Link:
21958159
Variant Present in the following documents:
Main text
View BVdb publication page