Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD3
Variant:p.E440D

ENTPD3

53 papers

RefSeq Summary

This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other ...

Pfam Domains

GDA1_CD39aa 49–480UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 3

HGNC Previous Symbol

CD39L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001248.4
p.E440D
c.1320G>T
Surrounding Variants
1 paper
NM_001248.4
p.E440D
c.1320G>C
1 paper
NM_001248.4
p.E441K
c.1321G>A
1 paper
NM_001248.4
p.I446insFs
c.1338dupA
1 paper
NM_001248.4
p.H447fs
c.1339_1340fs
1 paper
NM_001248.4
p.C422S
c.1265G>C
1 paper
NM_001248.4
p.C422S
c.1264T>A
1 paper
NM_001248.4
p.C399S
c.1196G>C
1 paper
NM_001248.4
p.C399S
c.1195T>A
1 paper
NM_001248.4
p.C353S
c.1058G>C
1 paper
NM_001248.4
p.C353S
c.1057T>A
1 paper
NM_001248.4
p.D349N
c.1045G>A
1 paper
NM_001248.4
p.C347S
c.1040G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."