Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.F185_T187Fs

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.F185_T187Fs
c.554_559delinsTGTGFs
Surrounding Variants
1 paper
NM_007254.4
p.P186S
c.556C>T
1 paper
NM_007254.4
p.S190N
c.569G>A
1 paper
NM_007254.4
p.W192*
c.575G>A
1 paper
NM_007254.4
p.W192*
c.576G>A
1 paper
NM_007254.4
p.R180C
c.538C>T
3 papers
NM_007254.4
p.R180S
c.538C>A
3 papers
NM_007254.4
p.R193Splc
c.578+4A>G
1 paper
NM_007254.4
p.T175_L176delFs
c.524_528del5
18 papers
NM_007254.4
p.L176F
c.526C>T
3 papers
NM_007254.4
p.D173A
c.518A>C
1 paper
NM_007254.4
p.D173N
c.517G>A
5 papers
NM_007254.4
p.D171A
c.512A>C
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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."