Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.A363A

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.A363A
c.1089C>A
Surrounding Variants
1 paper
NM_007254.4
p.P365insFs
c.1094dupC
1 paper
NM_007254.4
p.A370V
c.1109C>T
1 paper
NM_007254.4
p.L354F
c.1060C>T
19 papers
NM_007254.4
p.G375W
c.1123G>T
1 paper
NM_007254.4
p.G375A
c.1124G>C
1 paper
NM_007254.4
p.A376Splc
c.1127-8C>T
2 papers
NM_007254.4
p.A376Splc
c.1127-2A>G
3 papers
NM_007254.4
p.G377R
c.1129G>C
3 papers
NM_007254.4
p.G377R
c.1129G>A
1 paper
NM_007254.4
p.K378M
c.1133A>T
5 papers
NM_007254.4
p.K378T
c.1133A>C
14 papers
NM_007254.4
p.P343_R344Splc
c.1029+2T>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."