Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.G607V

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.G607V
c.1820G>T
Surrounding Variants
1 paper
NM_002863.5
p.G608S
c.1822G>A
1 paper
NM_001163940.2
p.R568R
c.1704G>A
1 paper
NM_002863.5
p.V600insFs
c.1798dupG
3 papers
NM_002863.5
p.V600L
c.1798G>C
1 paper
NM_002863.5
p.V600fs
c.1798_1799fs
1 paper
NM_002863.5
p.K593_D594delFs
c.1778_1781del4
1 paper
NM_002863.5
p.K592_K593del2
c.1774_1778del6
1 paper
NM_002863.5
p.K593fs
c.1777_1778fs
1 paper
NM_002863.5
p.K593fs
c.1777_1778fs
1 paper
NM_002863.5
p.K609_A610Splc
c.1828-4A>C
1 paper
NM_002863.5
p.K609_A610Splc
c.1828-2A>C
2 papers
NM_002863.5
p.A611V
c.1832C>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."