Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD3
Variant:p.I24V

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
2 papers
NM_001248.4
p.I24V
c.70A>G
Surrounding Variants
1 paper
NM_001248.4
p.P53S
c.157C>T
1 paper
NM_001248.4
p.A13E
c.38C>A
1 paper
NM_001248.4
p.C10S
c.29G>C
1 paper
NM_001248.4
p.C10S
c.28T>A
1 paper
NM_001248.4
p.C10delFs
c.29delG
1 paper
NM_001248.4
p.P9Q
c.26C>A
1 paper
NM_001248.4
p.T6delFs
c.16delA
1 paper
NM_001248.4
p.K56_Y57Splc
c.169-12C>T
1 paper
NM_001248.4
p.S66L
c.197C>T
1 paper
NM_001248.4
p.R67G
c.199A>G
1 paper
NM_001248.4
p.T69A
c.205A>G
1 paper
NM_001248.4
p.W75*
c.224G>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."