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
2 papers
NM_001002010.5
p.M46_M47Splc
c.139-1G>A
Surrounding Variants
3 papers
NM_001002010.5
p.M46_M47Splc
c.139-2A>G
1 paper
NM_001002010.5
p.E49V
c.146A>T
1 paper
NM_001002010.5
p.K52E
c.154A>G
1 paper
NM_001002010.5
p.S53insFs
c.158_159ins4
1 paper
NM_001002010.5
p.K52delFs
c.154delT
1 paper
NM_001002010.5
p.S53S
c.159T>C
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.I57I
c.171C>T
1 paper
NM_001002010.5
p.T61I
c.182C>T
1 paper
NM_001002010.5
p.R56_R62del0
c.168_185del18
1 paper
NM_001002010.5
p.I67T
c.200T>C
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