Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.N154D

NT5C2

489 papers

RefSeq Summary

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011...

Pfam Domains

5_nucleotidaa 35–497UCSC5' nucleotidase family

Gene Aliases

HGNC Name

5'-nucleotidase, cytosolic II

HGNC Previous Symbols

NT5B; SPG45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001351169.2
p.N154D
c.460A>G
Surrounding Variants
8 papers
NM_001351169.2
p.N154S
c.461A>G
1 paper
NM_001351169.2
p.T155insFs
c.464dupC
1 paper
NM_001351169.2
p.F157L
c.469T>C
1 paper
NM_001351169.2
p.F157L
c.471C>G
1 paper
NM_001351169.2
p.F157L
c.471C>A
1 paper
NM_001351169.2
p.R149S
c.447A>T
1 paper
NM_001351169.2
p.R149I
c.446G>T
6 papers
NM_001351169.2
p.R149*
c.445A>T
1 paper
NM_001351169.2
p.D145D
c.435T>C
1 paper
NM_001351169.2
p.R144_D145insFs
c.432_433ins8
3 papers
NM_001351169.2
p.R144*
c.430C>T
1 paper
NM_001351169.2
p.Q143Q
c.429G>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."