Varaico: Literature-Extracted Genetic Variants

Gene:DUT
Variant:p.I146L

DUT

41 papers

RefSeq Summary

This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two c...

Pfam Domains

dUTPaseaa 121–250UCSCdUTPase

Gene Aliases

HGNC Name

deoxyuridine triphosphatase

HGNC Alias Symbol

dUTPase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001025248.2
p.I146L
c.436A>T
Surrounding Variants
1 paper
NM_001025248.2
p.I146L
c.436A>C
3 papers
NM_001025248.2
p.Y142C
c.425A>G
1 paper
NM_001025248.2
p.K155R
c.464A>G
1 paper
NM_001025248.2
p.I160V
c.478A>G
1 paper
NM_001025248.2
p.A171fs
c.511_512fs
1 paper
NM_001025248.2
p.R128Q
c.383G>A
1 paper
NM_001025248.2
p.P100P
c.300C>A
1 paper
NM_001025248.2
p.P100S
c.298C>T
1 paper
NM_001025248.2
p.R62C
c.184C>T
1 paper
NM_001025248.2
p.S58ins1
c.173_174insACT
1 paper
NM_001025248.2
p.S58P
c.172T>C
1 paper
NM_001025248.2
p.N25N
c.75C>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."