Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.N259D

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.N259D
c.775A>G
Surrounding Variants
1 paper
NM_001002010.5
p.F258S
c.773T>C
1 paper
NM_001002010.5
p.R253R
c.759G>A
1 paper
NM_001002010.5
p.S265delFs
c.794delC
1 paper
NM_001002010.5
p.I267insFs
c.800_801insA
1 paper
NM_001002010.5
p.H248_D249insFs
c.744_745insGG
1 paper
NM_001002010.5
p.H248Y
c.742C>T
1 paper
NM_001002010.5
p.H243Y
c.727C>T
1 paper
NM_001002010.5
p.D276H
c.826G>C
1 paper
NM_001002010.5
p.L241_I242insFs
c.723_724insTT
1 paper
NM_001002010.5
p.L241L
c.721C>T
1 paper
NM_001002010.5
p.E240K
c.718G>A
1 paper
NM_001002010.5
p.R278I
c.833G>T
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