Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.K465*

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.K465*
c.1393A>T
Surrounding Variants
1 paper
NM_002863.5
p.V464_K465insFs
c.1392_1393insT
1 paper
NM_002863.5
p.V464M
c.1390G>A
1 paper
NM_002863.5
p.H460P
c.1379A>C
7 papers
NM_002863.5
p.V456M
c.1366G>A
1 paper
NM_002863.5
p.L445P
c.1334T>C
1 paper
NM_002863.5
p.E433A
c.1298A>C
3 papers
NM_002863.5
p.E433*
c.1297G>T
1 paper
NM_002863.5
p.S430Y
c.1289C>A
1 paper
NM_002863.5
p.R428M
c.1283G>T
1 paper
NM_002863.5
p.R427*
c.1279A>T
1 paper
NM_002863.5
p.R425H
c.1274G>A
1 paper
NM_002863.5
p.A417V
c.1250C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."