Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.S430C

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.S430C
c.1288A>T
Surrounding Variants
2 papers
NM_007254.4
p.S430fs
c.1288_1289fs
3 papers
NM_007254.4
p.A429fs
c.1285_1286fs
1 paper
NM_007254.4
p.A429G
c.1286C>G
1 paper
NM_007254.4
p.A429insFs
c.1285_1286ins31
2 papers
NM_007254.4
p.N425_A428insFs
c.1274_1284dup11
3 papers
NM_007254.4
p.A429fs
c.1285_1286fs
1 paper
NM_007254.4
p.P426_A428delFs
c.1278_1284del7
1 paper
NM_007254.4
p.A429_S430delFs
c.1287_1290del4
1 paper
NM_007254.4
p.R431H
c.1292G>A
2 papers
NM_007254.4
p.T424_A428insFs
c.1270_1283dup14
1 paper
NM_007254.4
p.A428S
c.1282G>T
1 paper
NM_007254.4
p.A432fs
c.1294_1295fs
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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."