Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.G233S

PYGL

154 papers

RefSeq Summary

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phospho...

Pfam Domains

Phosphorylaseaa 113–828UCSCCarbohydrate phosphorylase

Gene Aliases

HGNC Name

glycogen phosphorylase L

HGNC Alias Symbol

GSD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002863.5
p.G233S
c.697G>A
Surrounding Variants
7 papers
NM_002863.5
p.G233D
c.698G>A
1 paper
NM_002863.5
p.T229_V231del3
c.685_692del9
1 paper
NM_002863.5
p.V231M
c.691G>A
2 papers
NM_002863.5
p.D228Y
c.682G>T
1 paper
NM_002863.5
p.P226L
c.677C>T
1 paper
NM_002863.5
p.V239fs
c.715_716fs
2 papers
NM_002863.5
p.V239delFs
c.715_716delAC
1 paper
NM_002863.5
p.R243H
c.728G>A
1 paper
NM_001163940.2
p.V188V
c.564C>A
1 paper
NM_002863.5
p.V222I
c.664G>A
2 papers
NM_002863.5
p.L244F
c.730C>T
1 paper
NM_002863.5
p.S246P
c.736T>C
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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."