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HP c.349_350delinsGC ;(p.L117A)
Variant ID: 16-72092236-CT-GC
NM_005143.3(
HP
):c.349_350delinsGC;(p.L117A)
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 single XLF dimer bridges DNA ends during nonhomologous end joining.
Nature Structural & Molecular Biology
Graham, Thomas G W TGW; Carney, Sean M SM; Walter, Johannes C JC; Loparo, Joseph J JJ
Publication Date: 2018-09
Variant appearance in text: HP: L117A
PubMed Link:
30177755
Variant Present in the following documents:
Main text
nihms-979942.pdf
View BVdb publication page
Computational identification of residues that modulate voltage sensitivity of voltage-gated potassium channels.
Bmc Structural Biology
Li, Bin B; Gallin, Warren J WJ
Publication Date: 2005-08-19
Variant appearance in text: HP: L117A
PubMed Link:
16111489
Variant Present in the following documents:
1472-6807-5-16.pdf
View BVdb publication page