Varaico: Literature-Extracted Genetic Variants

Gene:NT5M
Variant:p.M42R

NT5M

20 papers

RefSeq Summary

This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is locat...

Pfam Domains

NT5Caa 34–226UCSC5' nucleotidase, deoxy (Pyrimidine), cytosolic type C protein (NT5C)

Gene Aliases

HGNC Name

5',3'-nucleotidase, mitochondrial

HGNC Alias Symbols

dNT-2; dNT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020201.4
p.M42R
c.125T>G
Surrounding Variants
1 paper
NM_020201.4
p.D43A
c.128A>C
1 paper
NM_020201.4
p.V17G
c.50T>G
1 paper
NM_020201.4
p.A15E
c.44C>A
1 paper
NM_020201.4
p.A15V
c.44C>T
1 paper
NM_020201.4
p.L12H
c.35T>A
1 paper
NM_020201.4
p.S78fs
c.232_233fs
1 paper
NM_020201.4
p.P86S
c.256C>T
1 paper
NM_020201.4
p.S89R
c.265A>C
1 paper
NM_020201.4
p.S89R
c.267C>A
1 paper
NM_020201.4
p.S89R
c.267C>G
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