Varaico: Literature-Extracted Genetic Variants

Gene:PAXX
Variant:p.V199A

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
7 papers
NM_183241.3
p.V199A
c.596T>C
Surrounding Variants
1 paper
NM_183241.3
p.K193R
c.578A>G
1 paper
NM_183241.3
p.K191E
c.571A>G
1 paper
NM_183241.3
p.S184S
c.552G>A
3 papers
NM_183241.3
p.S184A
c.550T>G
1 paper
NM_183241.3
p.S184delFs
c.551delC
1 paper
NM_183241.3
p.S184fs
c.550_551fs
1 paper
NM_183241.3
p.R179Q
c.536G>A
1 paper
NM_183241.3
p.R178M
c.533G>T
1 paper
NM_183241.3
p.R154fs
c.460_461fs
1 paper
NM_183241.3
p.P153T
c.457C>A
1 paper
NM_183241.3
p.A146T
c.436G>A
1 paper
NM_183241.3
p.E143K
c.427G>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."