Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R28R

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.R28R
c.84T>A
Surrounding Variants
5 papers
NM_001351169.2
p.R29*
c.85C>T
6 papers
NM_001351169.2
p.R29Q
c.86G>A
1 paper
NM_001351169.2
p.A31S
c.91G>T
1 paper
NM_001351169.2
p.K25Fs
c.75delinsGGTGGACAGAAAFs
2 papers
NM_001351169.2
p.Y32C
c.95A>G
1 paper
NM_001351169.2
p.L24insFs
c.70_71ins10
1 paper
NM_001351169.2
p.A23del1
c.67_68delGGC
1 paper
NM_001351169.2
p.R34Q
c.101G>A
1 paper
NM_001351169.2
p.H22N
c.64C>A
1 paper
NM_001351169.2
p.K21N
c.63G>T
2 papers
NM_001351169.2
p.K21N
c.63G>C
2 papers
NM_001351169.2
p.D20V
c.59A>T
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