Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.S218A

ENTPD1

130 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript...

Pfam Domains

GDA1_CD39aa 40–471UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 1

HGNC Previous Symbol

CD39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001776.6
p.S218A
c.652T>G
Surrounding Variants
1 paper
NM_001776.6
p.A217T
c.649G>A
2 papers
NM_001776.6
p.G216fs
c.646_647fs
1 paper
NM_001776.6
p.V221I
c.661G>A
1 paper
NM_001776.6
p.D213E
c.639C>A
1 paper
NM_001776.6
p.D213E
c.639C>G
1 paper
NM_001776.6
p.T222I
c.665C>T
1 paper
NM_001776.6
p.D213A
c.638A>C
2 papers
NM_001776.6
p.L214delFs
c.640delC
3 papers
NM_001776.6
p.G210R
c.628G>A
3 papers
NM_001776.6
p.G210R
c.628G>C
1 paper
NM_001776.6
p.Q226Q
c.678A>G
1 paper
NM_001776.6
p.N204S
c.611A>G
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