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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGZ

Variant:p.P150L

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

Selected Variant

1 paper

chr3:196948448 G>A

NM_025163.4

p.P150L

c.449C>T

Glyco_transf_22

Exome: 0.1% (AC=1954, hom=21)Genome: 0.1% (AC=190, hom=5)9 overlapping SVs

Surrounding Variants

1 paper

chr3:196948463 T>C

NM_025163.4

p.Y145C

c.434A>G

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

1 paper

chr3:196948467 C>T

NM_025163.4

p.V144M

c.430G>A

Glyco_transf_22

Exome: 0.0% (AC=153, hom=0)Genome: 0.0% (AC=4, hom=0)10 overlapping SVs

1 paper

chr3:196948426 G>A

NM_025163.4

p.N157N

c.471C>T

Glyco_transf_22

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=6, hom=0)9 overlapping SVs

1 paper

chr3:196948481 G>A

NM_025163.4

p.A139V

c.416C>T

Glyco_transf_22

Exome: 0.0% (AC=3, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr3:196948385 A>G

NM_025163.4

p.F171S

c.512T>C

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

1 paper

chr3:196948520 A>G

NM_025163.4

p.L126P

c.377T>C

Glyco_transf_22

exact variant not in gnomAD10 overlapping SVs

1 paper

chr3:196948526 G>A

NM_025163.4

p.A124V

c.371C>T

Glyco_transf_22

Exome: 0.4% (AC=6551, hom=22)Genome: 0.4% (AC=591, hom=1)10 overlapping SVs

1 paper

chr3:196948355 T>A

NM_025163.4

p.E181V

c.542A>T

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

1 paper

chr3:196948295 G>A

NM_025163.4

p.T201I

c.602C>T

Glyco_transf_22

Exome: 0.0% (AC=79, hom=0)Genome: 0.0% (AC=74, hom=0)9 overlapping SVs

1 paper

chr3:196948269 G>A

NM_025163.4

p.R210W

c.628C>T

Glyco_transf_22

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr3:196948268 C>G

NM_025163.4

p.R210P

c.629G>C

Glyco_transf_22

Exome: 0.0% (AC=1, 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

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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."