Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.M43T

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.M43T
c.128T>C
Surrounding Variants
1 paper
NM_001351169.2
p.L41F
c.123A>T
1 paper
NM_001351169.2
p.K45E
c.133A>G
1 paper
NM_001351169.2
p.L41F
c.123A>C
1 paper
NM_001351169.2
p.K45R
c.134A>G
1 paper
NM_001351169.2
p.K47E
c.139A>G
14 papers
NM_001351169.2
p.R39Q
c.116G>A
1 paper
NM_001351169.2
p.K47M
c.140A>T
2 papers
NM_001351169.2
p.K47R
c.140A>G
1 paper
NM_001351169.2
p.K47N
c.141G>T
1 paper
NM_001351169.2
p.K47N
c.141G>C
5 papers
NM_001351169.2
p.R39*
c.115C>T
1 paper
NM_001351169.2
p.C48insFs
c.143_144insA
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