Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.P233P

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.P233P
c.699T>A
Surrounding Variants
1 paper
NM_001351169.2
p.L232insFs
c.694_695insC
1 paper
NM_001351169.2
p.G230insFs
c.689_690insT
4 papers
NM_001351169.2
p.G230A
c.689G>C
1 paper
NM_001351169.2
p.G230R
c.688G>C
1 paper
NM_001351169.2
p.G230R
c.688G>A
1 paper
NM_001351169.2
p.S237_R238insFs
c.711_712insGG
21 papers
NM_001351169.2
p.R238W
c.712C>T
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.M239I
c.717G>T
1 paper
NM_001351169.2
p.M239I
c.717G>C
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