Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.R576*

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.R576*
c.1726C>T
Surrounding Variants
3 papers
NM_002863.5
p.R576Q
c.1727G>A
3 papers
NM_002863.5
p.Q577*
c.1729C>T
1 paper
NM_002863.5
p.V568E
c.1703T>A
1 paper
NM_001163940.2
p.V550Fs
c.1649delinsCTFs
1 paper
NM_001163940.2
p.V550V
c.1650G>A
2 papers
NM_002863.5
p.T586M
c.1757C>T
1 paper
NM_002863.5
p.R590Splc
c.1768+1G>T
13 papers
NM_002863.5
p.R590Splc
c.1768+1G>A
1 paper
NM_002863.5
p.R590Splc
c.1768+2T>C
1 paper
NM_002863.5
p.T552M
c.1655C>T
1 paper
NM_002863.5
p.L550Fs
c.1649delinsCTFs
1 paper
NM_002863.5
p.K593fs
c.1777_1778fs
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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."