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APC c.586A>G ;(p.I196V)
Variant ID: 5-112116541-A-G
NM_000038.5(
APC
):c.586A>G;(p.I196V)
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:
A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10
Variant appearance in text: APC: Ile196Val
PubMed Link:
33568653
Variant Present in the following documents:
41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page
Protein S K196E mutation reduces its cofactor activity for APC but not for TFPI.
Research And Practice In Thrombosis And Haemostasis
Maruyama, Keiko K; Akiyama, Masashi M; Miyata, Toshiyuki T; Kokame, Koichi K
Publication Date: 2018-10
Variant appearance in text: APC: 586A>G
PubMed Link:
30349894
Variant Present in the following documents:
Main text
RTH2-2-751.pdf
View BVdb publication page