Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.G133delins

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.G133delins
c.398_399delinsAA
Surrounding Variants
1 paper
NM_001776.6
p.G133delFs
c.398_399delGC
5 papers
NM_001776.6
p.M134R
c.401T>G
1 paper
NM_001776.6
p.T131M
c.392C>T
1 paper
NM_001776.6
p.V126I
c.376G>A
1 paper
NM_001776.6
p.E114G
c.341A>G
1 paper
NM_001776.6
p.V95L
c.283G>C
1 paper
NM_001776.6
p.R147S
c.441G>C
1 paper
NM_001776.6
p.R147S
c.441G>T
1 paper
NM_001776.6
p.E153delFs
c.457delG
1 paper
NM_001776.6
p.E153fs
c.457_458fs
1 paper
NM_001776.6
p.F163F
c.489C>T
1 paper
NM_001776.6
p.Q164L
c.491A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."