Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.Q44*

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
1 paper
NM_018283.4
p.Q44*
c.130C>T
Surrounding Variants
1 paper
NM_018283.4
p.G41G
c.123C>A
3 papers
NM_018283.4
p.P46R
c.137C>G
2 papers
NM_018283.4
p.P46P
c.138T>G
9 papers
NM_018283.4
p.G47R
c.139G>A
1 paper
NM_018283.4
p.G41S
c.121G>A
8 papers
NM_018283.4
p.G47R
c.139G>C
1 paper
NM_018283.4
p.A40G
c.119C>G
1 paper
NM_018283.4
p.A40V
c.119C>T
1 paper
NM_018283.4
p.G48S
c.142G>A
2 papers
NM_018283.4
p.H49Y
c.145C>T
1 paper
NM_018283.4
p.V38A
c.113T>C
1 paper
NM_018283.4
p.G36G
c.108C>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."