Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.K186N

NT5C3A

257 papers

RefSeq Summary

This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucl...

Pfam Domains

UMPH-1aa 86–331UCSCPyrimidine 5'-nucleotidase (UMPH-1)

Gene Aliases

HGNC Name

5'-nucleotidase, cytosolic IIIA

HGNC Previous Symbol

NT5C3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002010.5
p.K186N
c.558G>T
Surrounding Variants
1 paper
NM_001002010.5
p.K186N
c.558G>C
1 paper
NM_001166118.3
p.D139H
c.415G>C
3 papers
NM_001002010.5
p.F184_D185insFs
c.552_553ins4
1 paper
NM_001002010.5
p.H190L
c.569A>T
1 paper
NM_001002010.5
p.H190R
c.569A>G
1 paper
NM_001002010.5
p.E181delFs
c.543delC
1 paper
NM_001002010.5
p.P193A
c.577C>G
1 paper
NM_001002010.5
p.G179delFs
c.535delC
1 paper
NM_001002010.5
p.I192delFs
c.576delG
1 paper
NM_001002010.5
p.G179R
c.535G>A
1 paper
NM_001002010.5
p.E178K
c.532G>A
1 paper
NM_001002010.5
p.F195F
c.585C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."