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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGU

Variant:p.T159I

PIGU

41 papers

RefSeq Summary

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this ge...

Pfam Domains

PIG-Uaa 10–394UCSCGPI transamidase subunit PIG-U

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class U

HGNC Previous Symbol

CDC91L1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:34634668 G>A

NM_080476.5

p.T159I

c.476C>T

PIG-U

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

Surrounding Variants

1 paper

chr20:34637904 G>A

NM_080476.5

p.R134C

c.400C>T

PIG-U

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=21, hom=0)9 overlapping SVs

1 paper

chr20:34637986 C>A

NM_080476.5

p.V106_F107Splc

c.319-1G>T

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=26, hom=0)9 overlapping SVs

1 paper

chr20:34638129 G>A

NM_080476.5

p.V106_F107Splc

c.319-144C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=15, hom=0)9 overlapping SVs

2 papers

chr20:34644225 A>C

NM_080476.5

p.I86R

c.257T>G

PIG-U

exact variant not in gnomAD9 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."