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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGZ

PIGZ

50 papers

RefSeq Summary

The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endopla...

Pfam Domains

Glyco_transf_22aa 37–473UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class Z

HGNC Alias Symbols

FLJ12768; MGC52163; SMP3; hSMP3; PIG-Z; GPI-MT-IV

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 55 variants

5 papers

chr3:196948101 C>T

NM_025163.4

p.A266T

c.796G>A

Glyco_transf_22

Exome: 73.1% (AC=1050014, hom=386576)Genome: 78.4% (AC=119140, hom=47102)9 overlapping SVs

4 papers

chr3:196948101 CT>TC

NM_025163.4

p.A265_A266delins

c.795_796delinsGA

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

3 papers

chr3:196947878 C>T

NM_025163.4

p.R340Q

c.1019G>A

Glyco_transf_22

Exome: 58.6% (AC=856743, hom=253571)Genome: 61.5% (AC=93612, hom=29097)9 overlapping SVs

2 papers

chr3:196947647 A>G

NM_025163.4

p.V417A

c.1250T>C

Glyco_transf_22

Exome: 13.3% (AC=193438, hom=14930)Genome: 20.5% (AC=31252, hom=4585)9 overlapping SVs

2 papers

chr3:196947436 C>A

NM_025163.4

p.M487I

c.1461G>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

2 papers

chr3:196947436 C>G

NM_025163.4

p.M487I

c.1461G>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr3:196947436 C>T

NM_025163.4

p.M487I

c.1461G>A

Exome: 7.4% (AC=108486, hom=4518)Genome: 5.7% (AC=8671, hom=364)9 overlapping SVs

1 paper

chr3:196948683 C>G

NM_025163.4

p.D72H

c.214G>C

Glyco_transf_22

Exome: 0.0% (AC=15, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr3:196948664 G>A

NM_025163.4

p.A78V

c.233C>T

Glyco_transf_22

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

1 paper

chr3:196948635 T>G

NM_025163.4

p.S88R

c.262A>C

Glyco_transf_22

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

1 paper

chr3:196948633 G>C

NM_025163.4

p.S88R

c.264C>G

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

1 paper

chr3:196948633 G>T

NM_025163.4

p.S88R

c.264C>A

Glyco_transf_22

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 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."