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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYS2

Variant:p.L2insFs

GYS2

127 papers

RefSeq Summary

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of t...

Pfam Domains

Glycogen_synaa 32–667UCSCGlycogen synthase

Gene Aliases

HGNC Name

glycogen synthase 2

HGNC Previous Name

glycogen synthase 2 (liver)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:21604589 G>GA

NM_021957.4

p.L2insFs

c.4_5insT

exact variant not in gnomAD15 overlapping SVs

Surrounding Variants

1 paper

chr12:21604592 T>C

NM_021957.4

p.M1V

c.1A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

4 papers

chr12:21604580 G>A

NM_021957.4

p.R5*

c.13C>T

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr12:21604497 T>A

NM_021957.4

p.E32D

c.96A>T

Glycogen_syn

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:21604497 T>G

NM_021957.4

p.E32D

c.96A>C

Glycogen_syn

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

5 papers

chr12:21604477 T>C

NM_021957.4

p.N39S

c.116A>G

Glycogen_syn

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=8, hom=0)15 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."