Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.P320L

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
1 paper
NM_007254.4
p.P320L
c.959C>T
Surrounding Variants
1 paper
NM_007254.4
p.T323A
c.967A>G
9 papers
NM_007254.4
p.T323M
c.968C>T
1 paper
NM_007254.4
p.E325Q
c.973G>C
5 papers
NM_007254.4
p.E325E
c.975G>A
1 paper
NM_007254.4
p.E326Q
c.976G>C
26 papers
NM_007254.4
p.E326K
c.976G>A
1 paper
NM_007254.4
p.F328fs
c.982_983fs
1 paper
NM_007254.4
p.W331G
c.991T>G
1 paper
NM_007254.4
p.W331L
c.992G>T
1 paper
NM_007254.4
p.E337Q
c.1009G>C
1 paper
NM_007254.4
p.A340V
c.1019C>T
1 paper
NM_007254.4
p.F341C
c.1022T>G
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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."