Varaico: Literature-Extracted Genetic Variants

Gene:NT5C
Variant:p.D145N

NT5C

22 papers

RefSeq Summary

This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of n...

Pfam Domains

NT5Caa 3–195UCSC5' nucleotidase, deoxy (Pyrimidine), cytosolic type C protein (NT5C)

Gene Aliases

HGNC Name

5', 3'-nucleotidase, cytosolic

HGNC Previous Symbol

UMPH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014595.3
p.D145N
c.433G>A
Surrounding Variants
1 paper
NM_014595.3
p.R150P
c.449G>C
1 paper
NM_014595.3
p.I129insFs
c.385_386insA
1 paper
NM_014595.3
p.G121E
c.362G>A
1 paper
NM_014595.3
p.R177T
c.530G>C
1 paper
NM_014595.3
p.R179W
c.535C>T
1 paper
NM_014595.3
p.R179Q
c.536G>A
1 paper
NM_014595.3
p.L180L
c.538C>T
1 paper
NM_014595.3
p.T99P
c.295A>C
1 paper
NM_014595.3
p.C98*
c.294C>A
1 paper
NM_014595.3
p.I97M
c.291C>G
1 paper
NM_014595.3
p.V95A
c.284T>C
1 paper
NM_014595.3
p.L74_E75insG
c.220_224ins3
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