Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.R139C

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
273 papers
NM_018283.4
p.R139C
c.415C>T
Surrounding Variants
3 papers
NM_018283.4
p.R139S
c.415C>A
1 paper
NM_018283.4
p.R139G
c.415C>G
75 papers
NM_018283.4
p.R139H
c.416G>A
2 papers
NM_018283.4
p.L138L
c.412C>T
1 paper
NM_018283.4
p.L141*
c.422T>A
1 paper
NM_018283.4
p.L141*
c.422T>G
1 paper
NM_018283.4
p.G145A
c.434G>C
4 papers
NM_018283.4
p.P129R
c.386C>G
1 paper
NM_018283.4
p.L128P
c.383T>C
1 paper
NM_018283.4
p.W125*
c.374G>A
2 papers
NM_018283.4
p.L153L
c.457C>T
3 papers
NM_018283.4
p.L156Q
c.467T>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."