Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.Q164L

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.Q164L
c.491A>T
Surrounding Variants
1 paper
NM_001776.6
p.F163F
c.489C>T
1 paper
NM_001776.6
p.G165G
c.495T>A
1 paper
NM_001776.6
p.G165G
c.495T>C
3 papers
NM_001776.6
p.E174*
c.520G>T
1 paper
NM_001776.6
p.E174A
c.521A>C
1 paper
NM_001776.6
p.E174G
c.521A>G
1 paper
NM_001776.6
p.G175R
c.523G>C
1 paper
NM_001776.6
p.E153fs
c.457_458fs
1 paper
NM_001776.6
p.E153delFs
c.457delG
1 paper
NM_001776.6
p.W179*
c.536G>A
2 papers
NM_001776.6
p.I180delFs
c.540delT
2 papers
NM_001776.6
p.T181fs
c.541_542fs
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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."