Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.M10I

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.M10I
c.30G>C
Surrounding Variants
1 paper
NM_024782.3
p.M10I
c.30G>T
1 paper
NM_024782.3
p.M10I
c.30G>A
1 paper
NM_024782.3
p.M10L
c.28A>T
1 paper
NM_024782.3
p.M10L
c.28A>C
1 paper
NM_024782.3
p.G7A
c.20G>C
2 papers
NM_024782.3
p.A14T
c.40G>A
1 paper
NM_024782.3
p.E5V
c.14A>T
1 paper
NM_024782.3
p.L16P
c.47T>C
2 papers
NM_024782.3
p.E5fs
c.13_14fs
3 papers
NM_024782.3
p.L4insFs
c.11_12insT
1 paper
NM_024782.3
p.L4fs
c.10_11fs
1 paper
NM_024782.3
p.E3K
c.7G>A
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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."