Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.K258Q

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.K258Q
c.772A>C
Surrounding Variants
1 paper
NM_001776.6
p.G257fs
c.769_770fs
2 papers
NM_001776.6
p.G257delFs
c.770_771delGG
3 papers
NM_001164178.1
p.L274_W275delFs
c.822_823delCT
NM_001776.6
p.L262_W263delFs
c.786_787delCT
1 paper
NM_001164178.1
p.L274fs
c.820_821fs
1 paper
NM_001776.6
p.L262fs
c.784_785fs
1 paper
NM_001776.6
p.L254L
c.760T>C
1 paper
NM_001776.6
p.D269D
c.807C>T
2 papers
NM_001776.6
p.R240L
c.719G>T
1 paper
NM_001776.6
p.Q226Q
c.678A>G
1 paper
NM_001776.6
p.T222I
c.665C>T
1 paper
NM_001776.6
p.V221I
c.661G>A
1 paper
NM_001776.6
p.S218A
c.652T>G
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