Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.L396P

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.L396P
c.1187T>C
Surrounding Variants
1 paper
NM_002863.5
p.E394*
c.1180G>T
4 papers
NM_002863.5
p.R399*
c.1195C>T
1 paper
NM_002863.5
p.R399Q
c.1196G>A
2 papers
NM_002863.5
p.H400Y
c.1198C>T
1 paper
NM_002863.5
p.I407V
c.1219A>G
2 papers
NM_002863.5
p.E383D
c.1149A>T
2 papers
NM_002863.5
p.E383D
c.1149A>C
3 papers
NM_002863.5
p.P382L
c.1145C>T
1 paper
NM_002863.5
p.D413_R414Splc
c.1239+1G>A
7 papers
NM_002863.5
p.N377K
c.1131C>G
6 papers
NM_002863.5
p.N377K
c.1131C>A
2 papers
NM_002863.5
p.Q370*
c.1108C>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."