Varaico: Literature-Extracted Genetic Variants

Gene:NUDT1
Variant:p.D99N

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
2 papers
NM_002452.4
p.D99N
c.295G>A
Surrounding Variants
2 papers
NM_002452.4
p.D99A
c.296A>C
1 paper
NM_002452.4
p.E100K
c.298G>A
2 papers
NM_002452.4
p.E100A
c.299A>C
1 paper
NM_002452.4
p.S90R
c.270C>A
1 paper
NM_002452.4
p.V85I
c.253G>A
23 papers
NM_002452.4
p.V83M
c.247G>A
1 paper
NM_002452.4
p.D82fs
c.244_245fs
1 paper
NM_002452.4
p.M81insFs
c.242_243insG
1 paper
NM_002452.4
p.E79A
c.236A>C
1 paper
NM_198952.2
p.G99S
c.295G>A
1 paper
NM_002452.4
p.E73Q
c.217G>C
1 paper
NM_002452.4
p.V61V
c.183G>T
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