Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.E182fs

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
1 paper
NM_024782.3
p.E182fs
c.544_545fs
Surrounding Variants
4 papers
NM_024782.3
p.E182delFs
c.544_545delTC
1 paper
NM_024782.3
p.E182A
c.545A>C
2 papers
NM_024782.3
p.E182fs
c.544_545fs
2 papers
NM_024782.3
p.T181A
c.541A>G
1 paper
NM_024782.3
p.L179_K180delFs
c.535_538del4
2 papers
NM_024782.3
p.R178Q
c.533G>A
32 papers
NM_024782.3
p.R178*
c.532C>T
2 papers
NM_024782.3
p.R178R
c.532C>A
4 papers
NM_024782.3
p.D177Splc
c.530-1G>A
1 paper
NM_024782.3
p.S188fs
c.562_563fs
3 papers
NM_024782.3
p.D177Splc
c.530-2A>T
1 paper
NM_024782.3
p.D177Splc
c.530-3C>G
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."