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HR c.649G>A ;(p.A217T)
Variant ID: 8-21985306-C-T
NM_005144.4(
HR
):c.649G>A;(p.A217T)
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:
Genomic Variations in the Structural Proteins of SARS-CoV-2 and Their Deleterious Impact on Pathogenesis: A Comparative Genomics Approach.
Frontiers In Cellular And Infection Microbiology
Mohammad, Taj T; Choudhury, Arunabh A; Habib, Insan I; Asrani, Purva P; Mathur, Yash Y; Umair, Mohd M; Anjum, Farah F; Shafie, Alaa A; Yadav, Dharmendra Kumar DK; Hassan, Md Imtaiyaz MI
Publication Date: 2021
Variant appearance in text: HR: A217T
PubMed Link:
34722346
Variant Present in the following documents:
Main text
fcimb-11-765039.pdf
View BVdb publication page
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017
Variant appearance in text: HR: 649G>A
PubMed Link:
28590501
Variant Present in the following documents:
1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page