Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.W147Splc

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.W147Splc
c.441-1G>C
Surrounding Variants
1 paper
NM_001002010.5
p.W147Splc
c.441-4C>T
1 paper
NM_001002010.5
p.K150E
c.448A>G
1 paper
NM_001002010.5
p.Y148_T149del1
c.444_446delGTA
1 paper
NM_001002010.5
p.Q157L
c.470A>T
2 papers
NM_001002010.5
p.P161S
c.481C>T
1 paper
NM_001002010.5
p.K164insFs
c.490_491insT
1 paper
NM_001002010.5
p.K166insFs
c.497_498insT
1 paper
NM_001002010.5
p.E167delFs
c.499delC
1 paper
NM_001002010.5
p.V169V
c.507G>A
1 paper
NM_001002010.5
p.P142L
c.425C>T
1 paper
NM_001002010.5
p.E139Q
c.415G>C
1 paper
NM_001002010.5
p.V137L
c.409G>C
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