Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.N697D

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
1 paper
NM_002863.5
p.N697D
c.2089A>G
Surrounding Variants
1 paper
NM_002863.5
p.G695E
c.2084G>A
3 papers
NM_002863.5
p.G691R
c.2071G>C
3 papers
NM_002863.5
p.G691R
c.2071G>A
2 papers
NM_002863.5
p.E703del1
c.2107_2108delTTC
1 paper
NM_002863.5
p.A704A
c.2112T>C
1 paper
NM_002863.5
p.G705W
c.2113G>T
1 paper
NM_001163940.2
p.E673K
c.2017G>A
1 paper
NM_002863.5
p.E707G
c.2120A>G
1 paper
NM_002863.5
p.G686R
c.2056G>C
1 paper
NM_002863.5
p.G686R
c.2056G>A
2 papers
NM_002863.5
p.L709P
c.2126T>C
1 paper
NM_002863.5
p.F710insFs
c.2130dupC
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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."