Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD2
Variant:p.E63A

ENTPD2

61 papers

RefSeq Summary

The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphos...

Pfam Domains

GDA1_CD39aa 32–458UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 2

HGNC Previous Symbol

CD39L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203468.3
p.E63A
c.188A>C
Surrounding Variants
1 paper
NM_203468.3
p.E63D
c.189G>T
1 paper
NM_203468.3
p.E63D
c.189G>C
1 paper
NM_203468.3
p.K62M
c.185A>T
1 paper
NM_203468.3
p.K62R
c.185A>G
1 paper
NM_203468.3
p.D61E
c.183C>G
1 paper
NM_203468.3
p.D61E
c.183C>A
1 paper
NM_203468.3
p.D65A
c.194A>C
1 paper
NM_203468.3
p.D61A
c.182A>C
1 paper
NM_203468.3
p.D65E
c.195C>G
1 paper
NM_203468.3
p.D65E
c.195C>A
1 paper
NM_203468.3
p.T66A
c.196A>G
1 paper
NM_203468.3
p.G67S
c.199G>A
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