Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.L526P

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.L526P
c.1577T>C
Surrounding Variants
1 paper
NM_002863.5
p.K514Fs
c.1541delinsGAFs
1 paper
NM_002863.5
p.K539R
c.1616A>G
1 paper
NM_001163940.2
p.Q506Q
c.1518G>A
4 papers
NM_002863.5
p.Q540_E541Splc
c.1620+1G>C
9 papers
NM_002863.5
p.Q540_E541Splc
c.1620+1G>A
2 papers
NM_002863.5
p.E506_K507Splc
c.1519-1G>C
1 paper
NM_002863.5
p.L550Fs
c.1649delinsCTFs
1 paper
NM_002863.5
p.T552M
c.1655C>T
1 paper
NM_002863.5
p.V568E
c.1703T>A
1 paper
NM_002863.5
p.R576*
c.1726C>T
3 papers
NM_002863.5
p.R576Q
c.1727G>A
3 papers
NM_002863.5
p.Q577*
c.1729C>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."