Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R44H

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.R44H
c.131G>A
Surrounding Variants
1 paper
NM_002863.5
p.R44L
c.131G>T
1 paper
NM_002863.5
p.R44C
c.130C>T
1 paper
NM_002863.5
p.R50C
c.148C>T
1 paper
NM_002863.5
p.R50fs
c.148_149fs
1 paper
NM_002863.5
p.R50insFs
c.148dupC
1 paper
NM_002863.5
p.R50fs
c.148_149fs
1 paper
NM_002863.5
p.D51V
c.152A>T
1 paper
NM_002863.5
p.D51D
c.153C>T
1 paper
NM_002863.5
p.L36R
c.107T>G
1 paper
NM_002863.5
p.Y53_F54del1
c.158_160delAGT
2 papers
NM_002863.5
p.T59K
c.176C>A
1 paper
NM_002863.5
p.R61C
c.181C>T
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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."