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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGZ

Variant:p.R244C

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

chr3:196948167 G>A

NM_025163.4

p.R244C

c.730C>T

Glyco_transf_22

Exome: 0.0% (AC=121, hom=1)Genome: 0.0% (AC=16, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr3:196948218 G>A

NM_025163.4

p.R227W

c.679C>T

Glyco_transf_22

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

1 paper

chr3:196948103 G>A

NM_025163.4

p.A265V

c.794C>T

Glyco_transf_22

Exome: 0.1% (AC=1246, hom=2)Genome: 0.1% (AC=83, hom=0)9 overlapping SVs

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

1 paper

chr3:196948251 G>A

NM_025163.4

p.L216F

c.646C>T

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

1 paper

chr3:196948081 A>G

NM_025163.4

p.F272F

c.816T>C

Glyco_transf_22

Exome: 0.0% (AC=198, hom=0)Genome: 0.1% (AC=180, hom=1)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

chr3:196948269 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

chr3:196948047 C>T

NM_025163.4

p.A284T

c.850G>A

Glyco_transf_22

Exome: 0.0% (AC=164, hom=0)Genome: 0.0% (AC=25, hom=0)9 overlapping SVs

1 paper

chr3:196948042 T>C

NM_025163.4

p.T285T

c.855A>G

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

chr3:196948031 A>C

NM_025163.4

p.L289R

c.866T>G

Glyco_transf_22

exact variant not in gnomAD9 overlapping SVs

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