Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.C74delFs

NHEJ1

165 papers

RefSeq Summary

Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, wh...

Pfam Domains

XLFaa 12–125UCSCXLF N-terminal domain
XLF_CCaa 127–174UCSCXLF protein coiled-coil region

Gene Aliases

HGNC Name

non-homologous end joining factor 1

HGNC Alias Symbols

Cernunnos; XLF; FLJ12610

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_024782.3
p.C74delFs
c.221_222delAC
Surrounding Variants
1 paper
NM_024782.3
p.C74fs
c.220_221fs
2 papers
NM_024782.3
p.C74fs
c.220_221fs
1 paper
NM_024782.3
p.N78insFs
c.233dupA
5 papers
NM_024782.3
p.L79P
c.236T>C
1 paper
NM_024782.3
p.P82S
c.244C>T
1 paper
NM_024782.3
p.R64G
c.190C>G
1 paper
NM_024782.3
p.K63R
c.188A>G
5 papers
NM_024782.3
p.K59_E60Splc
c.178-1G>A
2 papers
NM_024782.3
p.V108insFs
c.324dupG
2 papers
NM_024782.3
p.R109fs
c.325_326fs
1 paper
NM_024782.3
p.S110T
c.329G>C
1 paper
NM_024782.3
p.S113P
c.337T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."