Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.L33R

PNKP

357 papers

RefSeq Summary

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of n...

Pfam Domains

FHA_2aa 10–81UCSCFHA domain
PNK3Paa 166–328UCSCPolynucleotide kinase 3 phosphatase
AAA_33aa 398–489UCSCAAA domain

Gene Aliases

HGNC Name

polynucleotide kinase 3'-phosphatase

HGNC Alias Symbol

PNK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007254.4
p.L33R
c.98T>G
Surrounding Variants
2 papers
NM_007254.4
p.G34R
c.100G>C
1 paper
NM_007254.4
p.G34V
c.101G>T
1 paper
NM_007254.4
p.R35G
c.103A>G
1 paper
NM_007254.4
p.A30T
c.88G>A
1 paper
NM_007254.4
p.Q29E
c.85C>G
1 paper
NM_007254.4
p.D27H
c.79G>C
1 paper
NM_007254.4
p.S26W
c.77C>G
1 paper
NM_007254.4
p.Q40R
c.119A>G
1 paper
NM_007254.4
p.V41I
c.121G>A
2 papers
NM_007254.4
p.V41D
c.122T>A
1 paper
NM_007254.4
p.L24delFs
c.72delC
1 paper
NM_007254.4
p.L24_P25insFs
c.72_73insC
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."