Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD3
Variant:p.L477P

ENTPD3

53 papers

RefSeq Summary

This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other ...

Pfam Domains

GDA1_CD39aa 49–480UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 3

HGNC Previous Symbol

CD39L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001248.4
p.L477P
c.1430T>C
Surrounding Variants
1 paper
NM_001248.4
p.L480L
c.1440G>T
4 papers
NM_001248.4
p.A496V
c.1487C>T
1 paper
NM_001248.4
p.L505F
c.1513C>T
1 paper
NM_001248.4
p.H447fs
c.1339_1340fs
1 paper
NM_001248.4
p.I446insFs
c.1338dupA
1 paper
NM_001248.4
p.E441K
c.1321G>A
1 paper
NM_001248.4
p.E440D
c.1320G>C
1 paper
NM_001248.4
p.E440D
c.1320G>T
1 paper
NM_001248.4
p.C422S
c.1265G>C
1 paper
NM_001248.4
p.C422S
c.1264T>A
1 paper
NM_001248.4
p.C399S
c.1196G>C
1 paper
NM_001248.4
p.C399S
c.1195T>A
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