Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.M46_M47Splc

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
3 papers
NM_001002010.5
p.M46_M47Splc
c.138+1G>C
Surrounding Variants
1 paper
NM_001002010.5
p.M46I
c.138G>T
1 paper
NM_001002010.5
p.M46I
c.138G>C
1 paper
NM_001002010.5
p.M46I
c.138G>A
1 paper
NM_001002010.5
p.T41I
c.122C>T
2 papers
NM_001002010.5
p.G38R
c.112G>C
2 papers
NM_001002010.5
p.K36K
c.108G>A
1 paper
NM_001002010.5
p.L33_R35Fs
c.98_104delinsTCCFs
1 paper
NM_001002010.5
p.A22_L33del12
c.64_98del36
1 paper
NM_001002010.5
p.F31F
c.93C>T
1 paper
NM_001002010.5
p.A27V
c.80C>T
1 paper
NM_001002010.5
p.G23_V24insFs
c.69_70insT
1 paper
NM_001002010.5
p.L20delFs
c.60delC
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