Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD3
Variant:p.C353S

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.C353S
c.1057T>A
Surrounding Variants
1 paper
NM_001248.4
p.C353S
c.1058G>C
1 paper
NM_001248.4
p.D349N
c.1045G>A
1 paper
NM_001248.4
p.C347S
c.1040G>C
1 paper
NM_001248.4
p.C347S
c.1039T>A
1 paper
NM_001248.4
p.C334S
c.1001G>C
1 paper
NM_001248.4
p.C334S
c.1000T>A
1 paper
NM_001248.4
p.D330A
c.989A>C
1 paper
NM_001248.4
p.G327E
c.980G>A
1 paper
NM_001248.4
p.C308S
c.923G>C
1 paper
NM_001248.4
p.C308S
c.922T>A
1 paper
NM_001248.4
p.S306R
c.918C>A
1 paper
NM_001248.4
p.S306R
c.918C>G
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