Varaico: Literature-Extracted Genetic Variants

Gene:PYGB

PYGB

91 papers

RefSeq Summary

The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active for...

Pfam Domains

Phosphorylaseaa 113–828UCSCCarbohydrate phosphorylase

Gene Aliases

HGNC Name

glycogen phosphorylase B

HGNC Previous Name

phosphorylase, glycogen; brain

Papers
RefSeq ID
Protein change
DNA change
1–12 of 99 variants
11 papers
NM_002862.4
p.A303S
c.907G>T
6 papers
NM_002862.4
p.D502N
c.1504G>A
3 papers
NM_002862.4
p.M683V
c.2047A>G
2 papers
NM_002862.4
p.A374A
c.1122A>G
2 papers
NM_002862.4
p.T514S
c.1541C>G
2 papers
NM_002862.4
p.R793_N794Splc
c.2380-1G>A
1 paper
NM_002862.4
p.M1V
c.1A>G
1 paper
NM_002862.4
p.R17C
c.49C>T
1 paper
NM_002862.4
p.G18delFs
c.52_53delGG
1 paper
NM_002862.4
p.T48T
c.144G>A
1 paper
NM_002862.4
p.T48T
c.144G>T
1 paper
NM_002862.4
p.R50delFs
c.148delC
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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."