Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.S57A

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.S57A
c.169T>G
Surrounding Variants
1 paper
NM_001776.6
p.D54E
c.162T>A
1 paper
NM_001776.6
p.D54E
c.162T>G
1 paper
NM_001776.6
p.D54A
c.161A>C
1 paper
NM_001776.6
p.D54N
c.160G>A
3 papers
NM_001776.6
p.L62*
c.185T>A
1 paper
NM_001776.6
p.L62S
c.185T>C
3 papers
NM_001776.6
p.L62*
c.185T>G
4 papers
NM_001776.6
p.Y49C
c.146A>G
2 papers
NM_001776.6
p.Y65C
c.194A>G
7 papers
NM_001776.6
p.K48_Y49Splc
c.145-1G>A
1 paper
NM_001776.6
p.A69T
c.205G>A
1 paper
NM_001776.6
p.D74V
c.221A>T
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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."