Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R238W

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
21 papers
NM_001351169.2
p.R238W
c.712C>T
Surrounding Variants
4 papers
NM_001351169.2
p.R238G
c.712C>G
4 papers
NM_001351169.2
p.R238L
c.713G>T
2 papers
NM_001351169.2
p.R238Q
c.713G>A
1 paper
NM_001351169.2
p.S237_R238insFs
c.711_712insGG
1 paper
NM_001351169.2
p.M239I
c.717G>T
1 paper
NM_001351169.2
p.M239I
c.717G>C
1 paper
NM_001351169.2
p.M239I
c.717G>A
1 paper
NM_001351169.2
p.K240Q
c.718A>C
3 papers
NM_001351169.2
p.K240R
c.719A>G
1 paper
NM_001351169.2
p.V242L
c.724G>T
1 paper
NM_001351169.2
p.P233P
c.699T>A
1 paper
NM_001351169.2
p.L232insFs
c.694_695insC
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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."