Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.S52R

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.S52R
c.156T>A
Surrounding Variants
2 papers
NM_024782.3
p.S52R
c.156T>G
2 papers
NM_024782.3
p.S52T
c.155G>C
2 papers
NM_024782.3
p.S52C
c.154A>T
1 paper
NM_024782.3
p.S52R
c.154A>C
13 papers
NM_024782.3
p.R57*
c.169C>T
24 papers
NM_024782.3
p.R57G
c.169C>G
1 paper
NM_024782.3
p.R57Q
c.170G>A
1 paper
NM_024782.3
p.E47K
c.139G>A
1 paper
NM_024782.3
p.A58G
c.173C>G
1 paper
NM_024782.3
p.K59fs
c.175_176fs
2 papers
NM_024782.3
p.V38I
c.112G>A
2 papers
NM_024782.3
p.Q32H
c.96G>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."