Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.A7insFs

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.A7insFs
c.21dupG
Surrounding Variants
1 paper
NM_001002010.5
p.A7ins3
c.20_21ins9
1 paper
NM_001002010.5
p.V6V
c.18G>C
1 paper
NM_001002010.5
p.V9insFs
c.26_27insT
1 paper
NM_001002010.5
p.G10S
c.28G>A
1 paper
NM_001002010.5
p.V6fs
c.16_17fs
1 paper
NM_001002010.5
p.A5V
c.14C>T
1 paper
NM_001002010.5
p.A4delFs
c.12delC
1 paper
NM_001002010.5
p.A5P
c.13G>C
1 paper
NM_001002010.5
p.A5T
c.13G>A
1 paper
NM_001002010.5
p.A4A
c.12G>A
1 paper
NM_001002010.5
p.A11insFs
c.32dupC
1 paper
NM_001002010.5
p.A4insFs
c.11_12insT
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