Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.P7S

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.P7S
c.19C>T
Surrounding Variants
1 paper
NM_007254.4
p.P7L
c.20C>T
1 paper
NM_007254.4
p.A6A
c.18C>T
1 paper
NM_007254.4
p.A6insFs
c.16_17ins10
1 paper
NM_007254.4
p.E5_A6insFs
c.14_17dup4
1 paper
NM_007254.4
p.A6insFs
c.17dupC
1 paper
NM_007254.4
p.E5D
c.15G>T
1 paper
NM_007254.4
p.E5D
c.15G>C
1 paper
NM_007254.4
p.V4V
c.12G>C
1 paper
NM_007254.4
p.V4G
c.11T>G
1 paper
NM_007254.4
p.L10L
c.30G>A
1 paper
NM_007254.4
p.G2D
c.5G>A
1 paper
NM_007254.4
p.M1K
c.2T>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."