Varaico: Literature-Extracted Genetic Variants

Gene:PAXX
Variant:p.E143K

PAXX

61 papers

RefSeq Summary

The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer...

Pfam Domains

PAXXaa 8–204UCSCPAXX, PAralog of XRCC4 and XLF, also called C9orf142

Gene Aliases

HGNC Name

PAXX non-homologous end joining factor

HGNC Previous Symbol

C9orf142

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_183241.3
p.E143K
c.427G>A
Surrounding Variants
1 paper
NM_183241.3
p.A146T
c.436G>A
1 paper
NM_183241.3
p.P153T
c.457C>A
1 paper
NM_183241.3
p.R154fs
c.460_461fs
1 paper
NM_183241.3
p.G127A
c.380G>C
1 paper
NM_183241.3
p.T125P
c.373A>C
1 paper
NM_183241.3
p.L124R
c.371T>G
1 paper
NM_183241.3
p.A123delFs
c.368delC
1 paper
NM_183241.3
p.A123fs
c.367_368fs
1 paper
NM_183241.3
p.R122fs
c.364_365fs
1 paper
NM_183241.3
p.L121L
c.363G>A
1 paper
NM_183241.3
p.R122delFs
c.364delC
1 paper
NM_183241.3
p.R120fs
c.358_359fs
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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."