Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.A807G

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.A807G
c.2420C>G
Surrounding Variants
1 paper
NM_002863.5
p.I806delFs
c.2417_2418delTA
3 papers
NM_002863.5
p.I806L
c.2416A>T
3 papers
NM_002863.5
p.I806L
c.2416A>C
1 paper
NM_002863.5
p.I806fs
c.2416_2417fs
2 papers
NM_002863.5
p.S809L
c.2426C>T
1 paper
NM_002863.5
p.F812S
c.2435T>C
4 papers
NM_002863.5
p.R816*
c.2446C>T
1 paper
NM_002863.5
p.W798R
c.2392T>C
1 paper
NM_002863.5
p.W798R
c.2392T>A
2 papers
NM_002863.5
p.Y821H
c.2461T>C
1 paper
NM_002863.5
p.M793_N794Splc
c.2380-1G>C
1 paper
NM_002863.5
p.M793_N794Splc
c.2380-1G>A
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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."