Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R94*

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
6 papers
NM_002863.5
p.R94*
c.280C>T
Surrounding Variants
1 paper
NM_002863.5
p.Q97_N98insFs
c.291_292insC
1 paper
NM_002863.5
p.N98insFs
c.292_293insC
1 paper
NM_002863.5
p.M100fs
c.298_299fs
1 paper
NM_002863.5
p.M100V
c.298A>G
1 paper
NM_002863.5
p.M100I
c.300G>A
2 papers
NM_002863.5
p.M100_L103delFs
c.298_307del10
1 paper
NM_002863.5
p.G104D
c.311G>A
1 paper
NM_002863.5
p.K81_R82Splc
c.244-1G>A
1 paper
NM_002863.5
p.N107fs
c.319_320fs
1 paper
NM_002863.5
p.N107fs
c.319_320fs
2 papers
NM_002863.5
p.N107insFs
c.320dupA
2 papers
NM_002863.5
p.Q115Q
c.345G>A
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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."