Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD2

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
1–12 of 73 variants
5 papers
NM_203468.3
p.E178K
c.532G>A
4 papers
NM_203468.3
p.A103V
c.308C>T
3 papers
NM_203468.3
p.G187ins1
c.560_561insGGG
2 papers
NM_203468.3
p.R191W
c.571C>T
2 papers
NM_203468.3
p.V343V
c.1029G>C
2 papers
NM_203468.3
p.N443D
c.1327A>G
1 paper
NM_203468.3
p.S7A
c.19T>G
1 paper
NM_203468.3
p.L9_A15delFs
c.26_44del19
1 paper
NM_203468.3
p.P11_A17insFs
c.32_50dup19
1 paper
NM_203468.3
p.G18fs
c.52_53fs
1 paper
NM_203468.3
p.G21R
c.61G>C
1 paper
NM_203468.3
p.G21A
c.62G>C
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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."