Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD3
Variant:p.M235I

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.M235I
c.705G>A
Surrounding Variants
1 paper
NM_001248.4
p.M235I
c.705G>C
1 paper
NM_001248.4
p.M235I
c.705G>T
1 paper
NM_001248.4
p.T239delFs
c.717delC
1 paper
NM_001248.4
p.L247V
c.739C>G
1 paper
NM_001248.4
p.S224A
c.670T>G
2 papers
NM_001248.4
p.D219E
c.657C>A
2 papers
NM_001248.4
p.D219E
c.657C>G
1 paper
NM_001248.4
p.Y252N
c.754T>A
1 paper
NM_001248.4
p.L218V
c.652C>G
1 paper
NM_001248.4
p.T215M
c.644C>T
1 paper
NM_001248.4
p.Q260R
c.779A>G
1 paper
NM_001248.4
p.C261S
c.781T>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."