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APC c.610_611delinsGC ;(p.L204A)
Variant ID: 5-112116565-CT-GC
NM_000038.5(
APC
):c.610_611delinsGC;(p.L204A)
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:
Residues in the 1st Transmembrane-Spanning Helix Are Important for GABAAρ Receptor Function.
Biomolecules
Crowther, Kate M KM; Mesoy, Susanne M SM; Lummis, Sarah C R SCR
Publication Date: 2022-09-07
Variant appearance in text: APC: L204A
PubMed Link:
36139090
Variant Present in the following documents:
Main text
biomolecules-12-01251.pdf
View BVdb publication page
Cyclin A2 mutagenesis analysis: a new insight into CDK activation and cellular localization requirements.
Plos One
Bendris, Nawal N; Lemmers, Bénédicte B; Blanchard, Jean-Marie JM; Arsic, Nikola N
Publication Date: 2011
Variant appearance in text: APC: L204A
PubMed Link:
21829545
Variant Present in the following documents:
Main text
View BVdb publication page