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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGU

Variant:p.N383K

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

4 papers

chr20:34575149 G>C

NM_080476.5

p.N383K

c.1149C>G

PIG-U

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

Surrounding Variants

4 papers

chr20:34575149 G>T

NM_080476.5

p.N383K

c.1149C>A

PIG-U

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=3, hom=0)8 overlapping SVs

1 paper

chr20:34575133 C>CATAAAAGAAATTAGAGTTGGCACT

NM_080476.5

p.S381_Y388ins2

c.1141_1164dup24

PIG-U

exact variant not in gnomAD8 overlapping SVs

1 paper

chr20:34575189 G>T

NM_080476.5

p.P370H

c.1109C>A

PIG-U

exact variant not in gnomAD8 overlapping SVs

1 paper

chr20:34581577 A>G

NM_080476.5

p.F341S

c.1022T>C

PIG-U

exact variant not in gnomAD8 overlapping SVs

1 paper

chr20:34581578 A>C

NM_080476.5

p.F341V

c.1021T>G

PIG-U

exact variant not in gnomAD8 overlapping SVs

2 papers

chr20:34581601 C>T

NM_080476.5

p.G333E

c.998G>A

PIG-U

Exome: 0.6% (AC=8575, hom=76)Genome: 1.1% (AC=1728, hom=19)8 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."