Varaico: Literature-Extracted Genetic Variants

Gene:NUDT1
Variant:p.E43Q

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.E43Q
c.127G>C
Surrounding Variants
1 paper
NM_002452.4
p.E43A
c.128A>C
1 paper
NM_002452.4
p.T44S
c.130A>T
1 paper
NM_002452.4
p.T44S
c.131C>G
1 paper
NM_002452.4
p.Q40H
c.120A>C
1 paper
NM_002452.4
p.Q40H
c.120A>T
1 paper
NM_002452.4
p.I45T
c.134T>C
1 paper
NM_002452.4
p.Q40R
c.119A>G
1 paper
NM_002452.4
p.Q40*
c.118C>T
1 paper
NM_002452.4
p.K38R
c.113A>G
1 paper
NM_002452.4
p.K38*
c.112A>T
1 paper
NM_002452.4
p.G37G
c.111C>T
2 papers
NM_002452.4
p.G48E
c.143G>A
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