Varaico: Literature-Extracted Genetic Variants

Gene:NUDT1
Variant:p.Q54R

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
Selected Variant
1 paper
NM_002452.4
p.Q54R
c.161A>G
Surrounding Variants
1 paper
NM_002452.4
p.Q54P
c.161A>C
1 paper
NM_002452.4
p.E55Q
c.163G>C
1 paper
NM_002452.4
p.E55A
c.164A>C
1 paper
NM_002452.4
p.E55D
c.165G>C
1 paper
NM_002452.4
p.E55D
c.165G>T
1 paper
NM_002452.4
p.E56Q
c.166G>C
1 paper
NM_002452.4
p.E52A
c.155A>C
1 paper
NM_002452.4
p.E52Q
c.154G>C
2 papers
NM_002452.4
p.G58R
c.172G>C
1 paper
NM_002452.4
p.V61V
c.183G>T
1 paper
NM_002452.4
p.E73Q
c.217G>C
1 paper
NM_198952.2
p.G99S
c.295G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."