Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.C123*

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.C123*
c.369C>A
Surrounding Variants
19 papers
NM_024782.3
p.C123R
c.367T>C
1 paper
NM_024782.3
p.Y118D
c.352T>G
2 papers
NM_024782.3
p.L130_V131Splc
c.390+1G>T
6 papers
NM_024782.3
p.L130_V131Splc
c.390+1G>C
1 paper
NM_024782.3
p.L115I
c.343C>A
1 paper
NM_024782.3
p.S113P
c.337T>C
1 paper
NM_024782.3
p.L130_V131Splc
c.390+13C>T
2 papers
NM_024782.3
p.L130_V131Splc
c.390+18G>A
1 paper
NM_024782.3
p.S110T
c.329G>C
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.P82S
c.244C>T
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