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HR c.1936G>C ;(p.E646Q)
Variant ID: 8-21980372-C-G
NM_005144.4(
HR
):c.1936G>C;(p.E646Q)
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:
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022
Variant appearance in text: HR: 1936G>C; E646Q
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Current and emerging roles of Cockayne syndrome group B (CSB) protein.
Nucleic Acids Research
Tiwari, Vinod V; Baptiste, Beverly A BA; Okur, Mustafa N MN; Bohr, Vilhelm A VA
Publication Date: 2021-03-18
Variant appearance in text: HR: E646Q
PubMed Link:
33590097
Variant Present in the following documents:
Main text
View BVdb publication page