Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.I289T

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_001164178.1
p.I289T
c.866T>C
Surrounding Variants
1 paper
NM_001776.6
p.R279insFs
c.835dupA
1 paper
NM_001776.6
p.S274_N275delFs
c.822_823delTA
1 paper
NM_001776.6
p.C282Y
c.845G>A
1 paper
NM_001776.6
p.Q271_V272Splc
c.814-6A>G
1 paper
NM_001776.6
p.Y287S
c.860A>C
3 papers
NM_001776.6
p.Y287C
c.860A>G
2 papers
NM_001164178.1
p.V305I
c.913G>A
NM_001776.6
p.V293I
c.877G>A
2 papers
NM_001776.6
p.Q323*
c.967C>T
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."