Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.V299A

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.V299A
c.896T>C
Surrounding Variants
1 paper
NM_001002010.5
p.V299L
c.895G>T
1 paper
NM_001002010.5
p.V299L
c.895G>C
3 papers
NM_001002010.5
p.R298_V299Splc
c.895-1G>C
1 paper
NM_001002010.5
p.R298_V299Splc
c.895-1G>A
1 paper
NM_001002010.5
p.D308D
c.924C>T
1 paper
NM_016489.14
p.D277G
c.830A>G
1 paper
NM_001002009.3
p.D283H
c.847G>C
1 paper
NM_001002010.5
p.D317G
c.950A>G
1 paper
NM_001002010.5
p.V315_E318del4
c.943_953del12
1 paper
NM_001002010.5
p.E321insFs
c.961_962insG
1 paper
NM_001002010.5
p.N324insFs
c.971_972insAT
1 paper
NM_001002010.5
p.I326N
c.977T>A
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."