Varaico: Literature-Extracted Genetic Variants

Gene:POLN
Variant:p.P577L

POLN

88 papers

RefSeq Summary

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlappi...

Pfam Domains

DNA_pol_P_Exoaa 198–416UCSCDNA polymerase nu pseudo-exo
DNA_pol_Aaa 447–854UCSCDNA polymerase family A

Gene Aliases

HGNC Name

DNA polymerase nu

HGNC Previous Names

polymerase (DNA directed) nu; polymerase (DNA) nu

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_181808.4
p.P577L
c.1730C>T
Surrounding Variants
2 papers
NM_181808.4
p.F545C
c.1634T>G
1 paper
NM_181808.4
p.L533L
c.1599G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."