Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.I258T

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_016489.14
p.I258T
c.773T>C
Surrounding Variants
2 papers
NM_001002009.3
p.E253E
c.759G>A
NM_001002010.5
p.E287E
c.861G>A
1 paper
NM_001002010.5
p.V286D
c.857T>A
2 papers
NM_001002010.5
p.R298_V299Splc
c.894+1G>A
1 paper
NM_001002010.5
p.R298_V299Splc
c.894+5G>A
1 paper
NM_001002010.5
p.V283L
c.847G>C
1 paper
NM_001002010.5
p.R278I
c.833G>T
1 paper
NM_001002010.5
p.R278K
c.833G>A
1 paper
NM_001002010.5
p.D276H
c.826G>C
1 paper
NM_001002010.5
p.I267insFs
c.800_801insA
1 paper
NM_001002010.5
p.S265delFs
c.794delC
1 paper
NM_001002010.5
p.R298_V299Splc
c.894+80G>A
1 paper
NM_001002010.5
p.N259D
c.775A>G
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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."