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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENTPD7

Variant:p.I47V

ENTPD7

37 papers

RefSeq Summary

This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside tripho...

Pfam Domains

GDA1_CD39aa 75–536UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 7

HGNC Alias Symbols

LALP1; FLJ30978

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:99661576 A>G

NM_020354.5

p.I47V

c.139A>G

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)27 overlapping SVs

Surrounding Variants

1 paper

chr10:99661567 A>G

NM_020354.5

p.M44V

c.130A>G

Exome: 0.1% (AC=1445, hom=5)Genome: 0.1% (AC=193, hom=1)27 overlapping SVs

1 paper

chr10:99661522 G>A

NM_020354.5

p.V29M

c.85G>A

Exome: 0.2% (AC=2901, hom=25)Genome: 0.2% (AC=233, hom=1)27 overlapping SVs

1 paper

chr10:99661493 C>A

NM_020354.5

p.P19H

c.56C>A

exact variant not in gnomAD27 overlapping SVs

1 paper

chr10:99661456 T>TN

NM_020354.5

p.S7fs

c.19_20fs

exact variant not in gnomAD27 overlapping SVs

1 paper

chr10:99661450 A>G

NM_020354.5

p.S5G

c.13A>G

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)27 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."