Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD2
Variant:p.A113V

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.A113V
c.338C>T
Surrounding Variants
1 paper
NM_203468.3
p.D106A
c.317A>C
4 papers
NM_203468.3
p.A103V
c.308C>T
1 paper
NM_203468.3
p.R126H
c.377G>A
1 paper
NM_203468.3
p.L96P
c.287T>C
1 paper
NM_203468.3
p.M141I
c.423G>T
1 paper
NM_203468.3
p.M141I
c.423G>C
1 paper
NM_203468.3
p.M141I
c.423G>A
1 paper
NM_203468.3
p.V143M
c.427G>A
1 paper
NM_203468.3
p.R158S
c.472C>A
1 paper
NM_203468.3
p.Q163H
c.489G>C
1 paper
NM_203468.3
p.E165Q
c.493G>C
1 paper
NM_203468.3
p.F168I
c.502T>A
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