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APAF1 c.548A>G ;(p.H183R)
Variant ID: 12-99052959-A-G
NM_181861.1(
APAF1
):c.548A>G;(p.H183R)
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:
In silico approach to the analysis of SNPs in the human APAF1 gene.
Turkish Journal Of Biology = Turk Biyoloji Dergisi
Kaman, Tuğba T; Karasakal, Ömer Faruk ÖF; Özkan Oktay, Ebru E; Ulucan, Korkut K; Konuk, Muhsin M
Publication Date: 2019
Variant appearance in text: APAF1: H183R; rs200830441
PubMed Link:
31892812
Variant Present in the following documents:
Main text
turkjbio-43-371.pdf
View BVdb publication page
Molecular insights on cytochrome c and nucleotide regulation of apoptosome function and its implication in cancer.
Biochimica Et Biophysica Acta. Molecular Cell Research
Yadav, Neelu N; Gogada, Raghu R; O'Malley, Jordan J; Gundampati, Ravi Kumar RK; Jayanthi, Srinivas S; Hashmi, Sana S; Lella, Ravi R; Zhang, Dianmu D; Wang, Jianmin J; Kumar, Rahul R; Suresh Kumar, Thallapuranam Krishnaswamy TK; Chandra, Dhyan D
Publication Date: 2020-01
Variant appearance in text: APAF-1: H183R
PubMed Link:
31678591
Variant Present in the following documents:
Main text
View BVdb publication page