Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2

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
1–12 of 391 variants
34 papers
NM_001351169.2
p.R367Q
c.1100G>A
21 papers
NM_001351169.2
p.R238W
c.712C>T
14 papers
NM_001351169.2
p.R39Q
c.116G>A
10 papers
NM_001351169.2
p.K359Q
c.1075A>C
9 papers
NM_001351169.2
p.T3A
c.7A>G
8 papers
NM_001351169.2
p.N154S
c.461A>G
7 papers
NM_001351169.2
p.D407A
c.1220A>C
7 papers
NM_001351169.2
p.S408R
c.1222A>C
7 papers
NM_001351169.2
p.S408R
c.1224C>G
7 papers
NM_001351169.2
p.S408R
c.1224C>A
7 papers
NM_001351169.2
p.S445F
c.1334C>T
6 papers
NM_001351169.2
p.R29Q
c.86G>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."