Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD8
Variant:p.S225C

ENTPD8

26 papers

Pfam Domains

GDA1_CD39aa 34–461UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 8

HGNC Alias Symbols

UNQ2492; NTPDase-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001033113.2
p.S225C
c.673A>T
Surrounding Variants
1 paper
NM_001033113.2
p.V216L
c.646G>T
1 paper
NM_001033113.2
p.V216L
c.646G>C
1 paper
NM_001033113.2
p.V216M
c.646G>A
1 paper
NM_001033113.2
p.L163L
c.489G>C
1 paper
NM_001033113.2
p.A160V
c.479C>T
1 paper
NM_001033113.2
p.G159fs
c.475_476fs
1 paper
NM_001033113.2
p.A295P
c.883G>C
1 paper
NM_001033113.2
p.L122L
c.366G>A
1 paper
NM_001033113.2
p.V340I
c.1018G>A
1 paper
NM_001033113.2
p.Q100R
c.299A>G
1 paper
NM_001033113.2
p.T358I
c.1073C>T
1 paper
NM_001033113.2
p.F361V
c.1081T>G
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