HP c.349_351delinsGAC ;(p.L117D)

Variant ID: 16-72092236-CTG-GAC

NM_005143.3(HP):c.349_351delinsGAC;(p.L117D)

This variant was identified in 1 publication

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: L117D
PubMed Link: 30177755
Variant Present in the following documents:
  • Main text
  • nihms-979942.pdf
View BVdb publication page