Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.N632I

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
3 papers
NM_002863.5
p.N632I
c.1895A>T
Surrounding Variants
1 paper
NM_002863.5
p.N633N
c.1899T>C
14 papers
NM_002863.5
p.D634H
c.1900G>C
1 paper
NM_002863.5
p.L623P
c.1868T>C
1 paper
NM_002863.5
p.V643I
c.1927G>A
1 paper
NM_002863.5
p.Y649*
c.1947C>G
2 papers
NM_002863.5
p.Y649*
c.1947C>A
1 paper
NM_002863.5
p.R650S
c.1950A>T
1 paper
NM_002863.5
p.R650S
c.1950A>C
2 papers
NM_002863.5
p.A611V
c.1832C>T
1 paper
NM_002863.5
p.E655G
c.1964A>G
1 paper
NM_002863.5
p.K609_A610Splc
c.1828-2A>C
1 paper
NM_002863.5
p.K609_A610Splc
c.1828-4A>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."