Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.K84insFs

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.K84insFs
c.251dupA
Surrounding Variants
1 paper
NM_016489.14
p.K84_L85Splc
c.252+1G>A
1 paper
NM_001002010.5
p.K118*
c.352A>T
1 paper
NM_001002010.5
p.K117N
c.351A>T
1 paper
NM_001002010.5
p.K117N
c.351A>C
1 paper
NM_016489.14
p.C81insFs
c.241dupT
1 paper
NM_016489.14
p.E80insFs
c.240dupA
1 paper
NM_016489.14
p.C81fs
c.241_242fs
1 paper
NM_001002010.5
p.I105_D106delFs
c.315_318del4
1 paper
NM_001002010.5
p.L122V
c.364C>G
1 paper
NM_001002010.5
p.Y126H
c.376T>C
1 paper
NM_001002010.5
p.I129insFs
c.385_386insA
2 papers
NM_001002010.5
p.V131V
c.393T>C
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