Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.S15G

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
2 papers
NM_002863.5
p.S15G
c.43A>G
Surrounding Variants
2 papers
NM_002863.5
p.E9_S15insFs
c.25_44dup20
1 paper
NM_002863.5
p.I16T
c.47T>C
1 paper
NM_002863.5
p.Q13_I14insFs
c.39_40insC
1 paper
NM_002863.5
p.I16insFs
c.47_48insT
3 papers
NM_002863.5
p.Q13P
c.38A>C
1 paper
NM_002863.5
p.R12fs
c.34_35fs
1 paper
NM_002863.5
p.R12fs
c.34_35fs
1 paper
NM_002863.5
p.R11insFs
c.33dupG
1 paper
NM_002863.5
p.V20A
c.59T>C
1 paper
NM_002863.5
p.E9V
c.26A>T
1 paper
NM_002863.5
p.E23E
c.69G>A
1 paper
NM_002863.5
p.N24K
c.72C>G
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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."