Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.Y167C

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
2 papers
NM_024782.3
p.Y167C
c.500A>G
Surrounding Variants
5 papers
NM_024782.3
p.Y167*
c.501C>G
6 papers
NM_024782.3
p.Y167*
c.501C>A
3 papers
NM_024782.3
p.Q165insFs
c.495dupA
2 papers
NM_024782.3
p.D166fs
c.496_497fs
4 papers
NM_024782.3
p.E169V
c.506A>T
1 paper
NM_024782.3
p.T173A
c.517A>G
6 papers
NM_024782.3
p.R176*
c.526C>T
1 paper
NM_024782.3
p.D177Splc
c.529+1G>A
2 papers
NM_024782.3
p.Q147Q
c.441G>A
1 paper
NM_024782.3
p.G141D
c.422G>A
1 paper
NM_024782.3
p.L139V
c.415C>G
1 paper
NM_024782.3
p.P138L
c.413C>T
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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."