Varaico: Literature-Extracted Genetic Variants

Gene:NUDT5
Variant:p.W46*

NUDT5

23 papers

RefSeq Summary

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (AD...

Pfam Domains

NUDIXaa 57–196UCSCNUDIX domain

Gene Aliases

HGNC Name

nudix hydrolase 5

HGNC Alias Symbols

hYSAH1; YSA1H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014142.4
p.W46*
c.138G>A
Surrounding Variants
2 papers
NM_014142.4
p.E47*
c.139G>T
2 papers
NM_014142.4
p.W46*
c.137G>A
1 paper
NM_014142.4
p.T45A
c.133A>G
1 paper
NM_014142.4
p.P66L
c.197C>T
1 paper
NM_014142.4
p.Y74F
c.221A>T
1 paper
NM_014142.4
p.C76Y
c.227G>A
1 paper
NM_014142.4
p.V80M
c.238G>A
1 paper
NM_014142.4
p.R84Q
c.251G>A
1 paper
NM_014142.4
p.P86L
c.257C>T
1 paper
NM_014142.4
p.E93Q
c.277G>C
1 paper
NM_014142.4
p.A96V
c.287C>T
1 paper
NM_014142.4
p.R111Q
c.332G>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."