Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.H405Y

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.H405Y
c.1213C>T
Surrounding Variants
3 papers
NM_001351169.2
p.K404N
c.1212G>T
1 paper
NM_001351169.2
p.K404_H405insFs
c.1212_1213ins4
3 papers
NM_001351169.2
p.K404N
c.1212G>C
1 paper
NM_001351169.2
p.L406R
c.1217T>G
5 papers
NM_001351169.2
p.D407Y
c.1219G>T
3 papers
NM_001351169.2
p.D407H
c.1219G>C
7 papers
NM_001351169.2
p.D407A
c.1220A>C
1 paper
NM_001351169.2
p.D407E
c.1221C>G
1 paper
NM_001351169.2
p.D407E
c.1221C>A
7 papers
NM_001351169.2
p.S408R
c.1222A>C
1 paper
NM_001351169.2
p.S408N
c.1223G>A
7 papers
NM_001351169.2
p.S408R
c.1224C>G
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