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APC c.187T>G ;(p.S63A)
Variant ID: 5-112102074-T-G
NM_000038.5(
APC
):c.187T>G;(p.S63A)
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: APC: S63A
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
The box H/ACA snoRNP assembly factor Shq1p is a chaperone protein homologous to Hsp90 cochaperones that binds to the Cbf5p enzyme.
Journal Of Molecular Biology
Godin, Katherine S KS; Walbott, Hélène H; Leulliot, Nicolas N; van Tilbeurgh, Herman H; Varani, Gabriele G
Publication Date: 2009-07-10
Variant appearance in text: APC: S63A
PubMed Link:
19426738
Variant Present in the following documents:
Main text
View BVdb publication page