Varaico: Literature-Extracted Genetic Variants

Gene:PNKP

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
1–12 of 309 variants
29 papers
NM_007254.4
p.K417_D422insFs
c.1250_1266dup17
26 papers
NM_007254.4
p.E326K
c.976G>A
19 papers
NM_007254.4
p.G375W
c.1123G>T
19 papers
NM_007254.4
p.T424fs
c.1270_1271fs
18 papers
NM_007254.4
p.L176F
c.526C>T
17 papers
NM_007254.4
p.P20S
c.58C>T
14 papers
NM_007254.4
p.P343_R344Splc
c.1029+2T>C
12 papers
NM_007254.4
p.T408del1
c.1222_1223delCGT
10 papers
NM_007254.4
p.A55S
c.163G>T
10 papers
NM_007254.4
p.G292R
c.874G>C
10 papers
NM_007254.4
p.G292R
c.874G>A
9 papers
NM_007254.4
p.T323M
c.968C>T
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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."