Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R442H

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.R442H
c.1325G>A
Surrounding Variants
2 papers
NM_001351169.2
p.R442C
c.1324C>T
1 paper
NM_001351169.2
p.F441F
c.1323T>C
7 papers
NM_001351169.2
p.S445F
c.1334C>T
1 paper
NM_001351169.2
p.Q447fs
c.1339_1340fs
2 papers
NM_001351169.2
p.Q447insFs
c.1339dupC
1 paper
NM_001351170.2
p.M445_G446insGG
c.1333_1337ins6
1 paper
NM_001351169.2
p.M436I
c.1308G>T
1 paper
NM_001351169.2
p.M436I
c.1308G>C
1 paper
NM_001351169.2
p.M436I
c.1308G>A
1 paper
NM_001351169.2
p.F450I
c.1348T>A
1 paper
NM_001351169.2
p.F450Y
c.1349T>A
1 paper
NM_001351170.2
p.F458_A459insFs
c.1374_1375ins13
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