Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.K359Q

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
10 papers
NM_001351169.2
p.K359Q
c.1075A>C
Surrounding Variants
1 paper
NM_001351169.2
p.K359T
c.1076A>C
2 papers
NM_001351169.2
p.S360P
c.1078T>C
1 paper
NM_001351169.2
p.S360*
c.1079C>G
1 paper
NM_001351169.2
p.S360*
c.1079C>A
1 paper
NM_001351169.2
p.D356E
c.1068C>G
1 paper
NM_001351169.2
p.D356E
c.1068C>A
1 paper
NM_001351169.2
p.D356N
c.1066G>A
2 papers
NM_001351169.2
p.G355E
c.1064G>A
1 paper
NM_001351169.2
p.I353_F354insFs
c.1059_1060insT
1 paper
NM_001351169.2
p.G355R
c.1063G>C
1 paper
NM_001351169.2
p.G355R
c.1063G>A
1 paper
NM_001351169.2
p.R363W
c.1087C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."