Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.M53I

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.M53I
c.159G>A
Surrounding Variants
1 paper
NM_001351169.2
p.M53I
c.159G>T
1 paper
NM_001351169.2
p.M53I
c.159G>C
1 paper
NM_001351169.2
p.M53R
c.158T>G
2 papers
NM_001351169.2
p.M53T
c.158T>C
1 paper
NM_001351169.2
p.M53K
c.158T>A
1 paper
NM_001351169.2
p.D54A
c.161A>C
2 papers
NM_001351169.2
p.D54E
c.162T>G
2 papers
NM_001351169.2
p.D54E
c.162T>A
3 papers
NM_001351169.2
p.D52N
c.154G>A
1 paper
NM_001351169.2
p.Y55F
c.164A>T
1 paper
NM_001351169.2
p.F51F
c.153T>C
1 paper
NM_001351169.2
p.T56S
c.166A>T
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