Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.A55S

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.A55S
c.163G>T
Surrounding Variants
1 paper
NM_007254.4
p.E52Q
c.154G>C
1 paper
NM_007254.4
p.V51fs
c.151_152fs
1 paper
NM_007254.4
p.V51L
c.151G>T
1 paper
NM_007254.4
p.V51L
c.151G>C
3 papers
NM_007254.4
p.A63V
c.188C>T
1 paper
NM_007254.4
p.V64A
c.191T>C
2 papers
NM_007254.4
p.Q66E
c.196C>G
1 paper
NM_007254.4
p.V51Splc
c.152-85A>G
1 paper
NM_007254.4
p.V51Splc
c.151+3G>A
1 paper
NM_007254.4
p.V51L
c.151G>C
1 paper
NM_007254.4
p.Q50L
c.149A>T
1 paper
NM_007254.4
p.Q50R
c.149A>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."