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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENTPD3

Variant:p.A13E

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:40388095 C>A

NM_001248.4

p.A13E

c.38C>A

Exome: 0.1% (AC=1127, hom=13)Genome: 0.1% (AC=126, hom=1)64 overlapping SVs

Surrounding Variants

1 paper

chr3:40388086 G>C

NM_001248.4

p.C10S

c.29G>C

exact variant not in gnomAD64 overlapping SVs

1 paper

chr3:40388085 T>A

NM_001248.4

p.C10S

c.28T>A

exact variant not in gnomAD64 overlapping SVs

1 paper

chr3:40388085 TG>T

NM_001248.4

p.C10delFs

c.29delG

exact variant not in gnomAD64 overlapping SVs

1 paper

chr3:40388083 C>A

NM_001248.4

p.P9Q

c.26C>A

exact variant not in gnomAD64 overlapping SVs

1 paper

chr3:40388072 GA>G

NM_001248.4

p.T6delFs

c.16delA

exact variant not in gnomAD64 overlapping SVs

2 papers

chr3:40392052 A>G

NM_001248.4

p.I24V

c.70A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a63 overlapping SVs

1 paper

chr3:40392139 C>T

NM_001248.4

p.P53S

c.157C>T

GDA1_CD39

exact variant not in gnomAD63 overlapping SVs

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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."