Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R363L

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
3 papers
NM_001351169.2
p.R363L
c.1088G>T
Surrounding Variants
2 papers
NM_001351169.2
p.R363Q
c.1088G>A
1 paper
NM_001351169.2
p.R363W
c.1087C>T
1 paper
NM_001351169.2
p.W366R
c.1096T>C
1 paper
NM_001351169.2
p.S360*
c.1079C>G
1 paper
NM_001351169.2
p.S360*
c.1079C>A
2 papers
NM_001351169.2
p.S360P
c.1078T>C
35 papers
NM_001351169.2
p.R367Q
c.1100G>A
NM_001351170.2
p.R375Q
c.1124G>A
1 paper
NM_001351169.2
p.K359T
c.1076A>C
10 papers
NM_001351169.2
p.K359Q
c.1075A>C
2 papers
NM_001351169.2
p.F369S
c.1106T>C
1 paper
NM_001351169.2
p.T368_F369del2
c.1102_1106del6
1 paper
NM_001351169.2
p.L370fs
c.1108_1109fs
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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."