Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.R418fs

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.R418fs
c.1252_1253fs
Surrounding Variants
1 paper
NM_007254.4
p.V419_A420insFs
c.1255_1258dup4
1 paper
NM_007254.4
p.A420fs
c.1258_1259fs
1 paper
NM_007254.4
p.N423insFs
c.1269dupC
29 papers
NM_007254.4
p.K417_D422insFs
c.1250_1266dup17
19 papers
NM_007254.4
p.T424fs
c.1270_1271fs
6 papers
NM_007254.4
p.T424fs
c.1270_1271fs
2 papers
NM_007254.4
p.C409W
c.1227T>G
1 paper
NM_007254.4
p.C409R
c.1225T>C
12 papers
NM_007254.4
p.T408del1
c.1222_1223delCGT
1 paper
NM_007254.4
p.D427fs
c.1279_1280fs
8 papers
NM_007254.4
p.T407_T408del1
c.1221_1223delGTG
1 paper
NM_007254.4
p.A428S
c.1282G>T
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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."