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PC c.844_845delinsGC ;(p.H282A)
Variant ID: 11-66637831-TG-GC
NM_001040716.1(
PC
):c.844_845delinsGC;(p.H282A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Histidine 282 in 5-aminolevulinate synthase affects substrate binding and catalysis.
Biochemistry
Turbeville, Tracy D TD; Zhang, Junshun J; Hunter, Gregory A GA; Ferreira, Gloria C GC
Publication Date: 2007-05-22
Variant appearance in text: PC: H282A
PubMed Link:
17469798
Variant Present in the following documents:
Main text
View BVdb publication page