Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.E118*

NUDT15

313 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which...

Pfam Domains

NUDIXaa 11–144UCSCNUDIX domain
NUDIXaa 11–144UCSCNUDIX domain

Gene Aliases

HGNC Name

nudix hydrolase 15

HGNC Alias Symbols

MTH2; FLJ10956

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018283.4
p.E118*
c.352G>T
Surrounding Variants
1 paper
NM_018283.4
p.N117fs
c.349_350fs
2 papers
NM_018283.4
p.E115G
c.344A>G
1 paper
NM_018283.4
p.E115fs
c.343_344fs
2 papers
NM_018283.4
p.E115fs
c.343_344fs
4 papers
NM_018283.4
p.E115insFs
c.343dupG
1 paper
NM_018283.4
p.H105Y
c.313C>T
1 paper
NM_018283.4
p.D102Y
c.304G>T
1 paper
NM_018283.4
p.K98E
c.292A>G
1 paper
NM_018283.4
p.M97T
c.290T>C
1 paper
NM_018283.4
p.I95V
c.283A>G
1 paper
NM_018283.4
p.V93V
c.279T>C
2 papers
NM_018283.4
p.V93I
c.277G>A
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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."