Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.Q323*

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
2 papers
NM_001776.6
p.Q323*
c.967C>T
Surrounding Variants
4 papers
NM_001776.6
p.Q324*
c.970C>T
NM_001164178.1
p.Q336*
c.1006C>T
4 papers
NM_001776.6
p.H326delFs
c.978delT
1 paper
NM_001776.6
p.S328delFs
c.982delA
2 papers
NM_001776.6
p.Q327fs
c.979_980fs
1 paper
NM_001776.6
p.L332insFs
c.994_995ins16
1 paper
NM_001776.6
p.Y337*
c.1011C>A
1 paper
NM_001776.6
p.Y337*
c.1011C>G
2 papers
NM_001776.6
p.G347delFs
c.1041delG
1 paper
NM_001776.6
p.I348fs
c.1042_1043fs
1 paper
NM_001776.6
p.L353F
c.1057C>T
2 papers
NM_001164178.1
p.V305I
c.913G>A
NM_001776.6
p.V293I
c.877G>A
1 paper
NM_001776.6
p.Y287S
c.860A>C
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