Varaico: Literature-Extracted Genetic Variants

Gene:NUDT5
Variant:p.A96V

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
1 paper
NM_014142.4
p.A96V
c.287C>T
Surrounding Variants
1 paper
NM_014142.4
p.E93Q
c.277G>C
1 paper
NM_014142.4
p.P86L
c.257C>T
1 paper
NM_014142.4
p.R84Q
c.251G>A
1 paper
NM_014142.4
p.V80M
c.238G>A
1 paper
NM_014142.4
p.C76Y
c.227G>A
1 paper
NM_014142.4
p.Y74F
c.221A>T
1 paper
NM_014142.4
p.P66L
c.197C>T
2 papers
NM_014142.4
p.E47*
c.139G>T
2 papers
NM_014142.4
p.W46*
c.138G>A
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.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."