Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.G350fs

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.G350fs
c.1048_1049fs
Surrounding Variants
1 paper
NM_001351169.2
p.G350insFs
c.1048_1049ins10
1 paper
NM_001351169.2
p.G350_D351ins1
c.1050_1051insTGT
1 paper
NM_001351169.2
p.G350delFs
c.1049delC
1 paper
NM_001351169.2
p.D351N
c.1051G>A
1 paper
NM_001351169.2
p.D351E
c.1053T>G
1 paper
NM_001351169.2
p.D351E
c.1053T>A
1 paper
NM_001351169.2
p.H352D
c.1054C>G
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
2 papers
NM_001351169.2
p.G355E
c.1064G>A
1 paper
NM_001351169.2
p.D356N
c.1066G>A
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