Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.E13A

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.E13A
c.38A>C
Surrounding Variants
1 paper
NM_007254.4
p.E13G
c.38A>G
1 paper
NM_007254.4
p.E13*
c.37G>T
2 papers
NM_007254.4
p.E13Q
c.37G>C
1 paper
NM_007254.4
p.L12delFs
c.35delA
1 paper
NM_007254.4
p.S14R
c.40A>C
1 paper
NM_007254.4
p.S14R
c.42C>G
1 paper
NM_007254.4
p.S14R
c.42C>A
1 paper
NM_007254.4
p.P15H
c.44C>A
1 paper
NM_007254.4
p.L10L
c.30G>A
1 paper
NM_007254.4
p.P16_G17ins10
c.46_50ins30
1 paper
NM_007254.4
p.G17R
c.49G>A
1 paper
NM_007254.4
p.G17G
c.51G>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."