Varaico: Literature-Extracted Genetic Variants

Gene:PAXX

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
1–12 of 33 variants
7 papers
NM_183241.3
p.P3R
c.8C>G
7 papers
NM_183241.3
p.V199A
c.596T>C
3 papers
NM_183241.3
p.S184A
c.550T>G
1 paper
NM_183241.3
p.L11L
c.33G>C
1 paper
NM_183241.3
p.D33E
c.99C>A
1 paper
NM_183241.3
p.D33E
c.99C>G
1 paper
NM_183241.3
p.L57M
c.169C>A
1 paper
NM_183241.3
p.G101E
c.302G>A
1 paper
NM_183241.3
p.L105M
c.313C>A
1 paper
NM_183241.3
p.E116V
c.347A>T
1 paper
NM_183241.3
p.A117S
c.349G>T
1 paper
NM_183241.3
p.A118insFs
c.353_354insG
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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."