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F2 c.1600C>T ;(p.P534S)
Variant ID: 11-46751057-C-T
NM_000506.3(
F2
):c.1600C>T;(p.P534S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: F2: 1600C>T
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: F2: P534S
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page
Salinity-induced anti-angiogenesis activities and structural changes of the polysaccharides from cultured Cordyceps Militaris.
Plos One
Zeng, Yangyang Y; Han, Zhangrun Z; Qiu, Peiju P; Zhou, Zijing Z; Tang, Yang Y; Zhao, Yue Y; Zheng, Sha S; Xu, Chenchen C; Zhang, Xiuli X; Yin, Pinghe P; Jiang, Xiaolu X; Lu, Hong H; Yu, Guangli G; Zhang, Lijuan L
Publication Date: 2014
Variant appearance in text: F2: P534S
PubMed Link:
25203294
Variant Present in the following documents:
pone.0103880.pdf
View BVdb publication page
The search for the gene mutations underlying enterotoxigenic Escherichia coli F4ab/ac susceptibility in pigs: a review.
Veterinary Research
Schroyen, Martine M; Stinckens, Anneleen A; Verhelst, Roderick R; Niewold, Theo T; Buys, Nadine N
Publication Date: 2012-10-12
Variant appearance in text: F2: 1600C>T
PubMed Link:
23061722
Variant Present in the following documents:
Main text
1297-9716-43-70.pdf
View BVdb publication page