Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD2
Variant:p.N443D

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
2 papers
NM_203468.3
p.N443D
c.1327A>G
Surrounding Variants
1 paper
NM_203468.3
p.Y440C
c.1319A>G
1 paper
NM_203468.3
p.R456C
c.1366C>T
1 paper
NM_203468.3
p.R456S
c.1366C>A
1 paper
NM_203468.3
p.K428_A429Splc
c.1285-1G>A
1 paper
NM_203468.3
p.V466I
c.1396G>A
1 paper
NM_203468.3
p.C399S
c.1196G>C
1 paper
NM_203468.3
p.C399S
c.1195T>A
1 paper
NM_203468.3
p.V376I
c.1126G>A
1 paper
NM_203468.3
p.A364V
c.1091C>T
2 papers
NM_203468.3
p.V343V
c.1029G>C
1 paper
NM_203468.3
p.R327Q
c.980G>A
1 paper
NM_203468.3
p.S304N
c.911G>A
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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."