Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.D14A

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.D14A
c.41A>C
Surrounding Variants
1 paper
NM_001351169.2
p.D14N
c.40G>A
2 papers
NM_001351169.2
p.M15T
c.44T>C
3 papers
NM_001351169.2
p.A12_A13ins2
c.36_37ins6
1 paper
NM_001351169.2
p.A17V
c.50C>T
1 paper
NM_001351169.2
p.M19K
c.56T>A
1 paper
NM_001351169.2
p.L9I
c.25T>A
1 paper
NM_001351169.2
p.R8delFs
c.23delC
1 paper
NM_001351169.2
p.R8Fs
c.24delinsACFs
2 papers
NM_001351169.2
p.D20V
c.59A>T
1 paper
NM_001351169.2
p.D7G
c.20A>G
1 paper
NM_001351169.2
p.K21N
c.63G>T
2 papers
NM_001351169.2
p.K21N
c.63G>C
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