Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.F246L

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.F246L
c.738T>A
Surrounding Variants
1 paper
NM_001351169.2
p.F246L
c.738T>G
1 paper
NM_001351169.2
p.F246L
c.736T>C
1 paper
NM_001351169.2
p.T249S
c.745A>T
1 paper
NM_001351169.2
p.T249A
c.745A>G
1 paper
NM_001351169.2
p.T249S
c.746C>G
1 paper
NM_001351169.2
p.T249insFs
c.746dupC
1 paper
NM_001351169.2
p.V242L
c.724G>T
1 paper
NM_001351169.2
p.S251T
c.752G>C
1 paper
NM_001351169.2
p.S251N
c.752G>A
1 paper
NM_001351169.2
p.D252E
c.756C>G
1 paper
NM_001351169.2
p.D252E
c.756C>A
1 paper
NM_001351169.2
p.Y253N
c.757T>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."