Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.K72*

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.K72*
c.214A>T
Surrounding Variants
1 paper
NM_001002010.5
p.G73delFs
c.218delC
1 paper
NM_001002010.5
p.G69D
c.206G>A
1 paper
NM_001002010.5
p.A75insFs
c.223_224ins4
1 paper
NM_001002010.5
p.I67T
c.200T>C
1 paper
NM_001002010.5
p.A75_A76delFs
c.224_227del4
1 paper
NM_001002010.5
p.Q79_I80Splc
c.237+1G>A
1 paper
NM_001002010.5
p.R56_R62del0
c.168_185del18
1 paper
NM_001002010.5
p.T61I
c.182C>T
1 paper
NM_001002010.5
p.I57I
c.171C>T
1 paper
NM_016489.14
p.R22*
c.64C>T
2 papers
NM_001002010.5
p.R56G
c.166C>G
1 paper
NM_001002010.5
p.S53S
c.159T>C
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