Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.G292R

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
10 papers
NM_007254.4
p.G292R
c.874G>C
Surrounding Variants
10 papers
NM_007254.4
p.G292R
c.874G>A
1 paper
NM_007254.4
p.A291S
c.871G>T
1 paper
NM_007254.4
p.G292delFs
c.876delT
1 paper
NM_007254.4
p.D289Y
c.865G>T
2 papers
NM_007254.4
p.R301W
c.901C>T
1 paper
NM_007254.4
p.K302E
c.904A>G
1 paper
NM_007254.4
p.F306fs
c.916_917fs
1 paper
NM_007254.4
p.S307P
c.919T>C
1 paper
NM_007254.4
p.L312_F313Splc
c.936+1G>T
1 paper
NM_007254.4
p.D289Splc
c.865+1G>A
1 paper
NM_007254.4
p.D289Y
c.865G>T
2 papers
NM_007254.4
p.D283G
c.848A>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."