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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYG1

Variant:p.R33K

GYG1

98 papers

RefSeq Summary

This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylatio...

Pfam Domains

Glyco_transf_8aa 6–120UCSCGlycosyl transferase family 8

Glyco_transf_8aa 116–224UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycogenin 1

HGNC Previous Name

glycogenin

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:148994232 G>A

NM_004130.4

p.R33K

c.98G>A

Glyco_transf_8

Exome: 0.2% (AC=2887, hom=5)Genome: 0.1% (AC=194, hom=0)70 overlapping SVs

Surrounding Variants

1 paper

chr3:148994228 A>T

NM_004130.4

p.T32S

c.94A>T

Glyco_transf_8

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148994238 T>G

NM_004130.4

p.L35R

c.104T>G

Glyco_transf_8

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148994258 C>G

NM_004130.4

p.Q42E

c.124C>G

Glyco_transf_8

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148994202 G>A

NM_004130.4

p.G23E

c.68G>A

Glyco_transf_8

Exome: 0.1% (AC=941, hom=2)Genome: 0.0% (AC=57, hom=0)70 overlapping SVs

1 paper

chr3:148994277 G>C

NM_004130.4

p.R48T

c.143G>C

Glyco_transf_8

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148994184 A>G

NM_004130.4

p.K17R

c.50A>G

Glyco_transf_8

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

15 papers

chr3:148994280 G>C

NM_004130.4

p.R48Splc

c.143+3G>C

Exome: 0.0% (AC=522, hom=0)Genome: 0.0% (AC=29, hom=0)70 overlapping SVs

2 papers

chr3:148994180 G>A

NM_004130.4

p.A16T

c.46G>A

Glyco_transf_8

Exome: 0.0% (AC=710, hom=8)Genome: 0.0% (AC=29, hom=1)70 overlapping SVs

5 papers

chr3:148994180 G>C

NM_004130.4

p.A16P

c.46G>C

Glyco_transf_8

Exome: 0.0% (AC=2, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:148994148 C>T

NM_004130.4

p.A5V

c.14C>T

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=5, hom=0)70 overlapping SVs

1 paper

chr3:148994147 G>C

NM_004130.4

p.A5P

c.13G>C

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148994147 G>T

NM_004130.4

p.A5S

c.13G>T

exact variant not in gnomAD70 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."