Varaico: Literature-Extracted Genetic Variants

Gene:NUDT1

NUDT1

81 papers

RefSeq Summary

Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded ...

Pfam Domains

NUDIXaa 3–127UCSCNUDIX domain

Gene Aliases

HGNC Name

nudix hydrolase 1

HGNC Previous Symbol

MTH1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
23 papers
NM_002452.4
p.V83M
c.247G>A
4 papers
NM_002452.4
p.D119A
c.356A>C
3 papers
NM_002452.4
p.V18I
c.52G>A
3 papers
NM_002452.4
p.R25*
c.73C>T
3 papers
NM_002452.4
p.D119N
c.355G>A
3 papers
NM_002452.4
p.D119D
c.357C>T
2 papers
NM_002452.4
p.R31Q
c.92G>A
2 papers
NM_002452.4
p.G48E
c.143G>A
2 papers
NM_002452.4
p.A49S
c.145G>T
2 papers
NM_002452.4
p.G58R
c.172G>C
2 papers
NM_002452.4
p.D99N
c.295G>A
2 papers
NM_002452.4
p.D99A
c.296A>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."