Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.W798R

PYGM

448 papers

RefSeq Summary

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease...

Pfam Domains

Phosphorylaseaa 113–828UCSCCarbohydrate phosphorylase

Gene Aliases

HGNC Name

glycogen phosphorylase, muscle associated

HGNC Alias Symbol

GSD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
44 papers
NM_005609.4
p.W798R
c.2392T>A
Surrounding Variants
46 papers
NM_005609.4
p.W798R
c.2392T>C
1 paper
NM_005609.4
p.W798*
c.2393G>A
1 paper
NM_005609.4
p.W798*
c.2394G>A
3 papers
NM_005609.4
p.E797fs
c.2389_2390fs
9 papers
NM_005609.4
p.P795_R796delFs
c.2385_2386delTT
6 papers
NM_005609.4
p.K793_N794Splc
c.2380-1G>A
1 paper
NM_005609.4
p.R804G
c.2410C>G
1 paper
NM_005609.4
p.R804R
c.2412G>A
1 paper
NM_005609.4
p.T808P
c.2422A>C
2 papers
NM_005609.4
p.S809insFs
c.2425_2426insT
1 paper
NM_005609.4
p.G810D
c.2429G>A
4 papers
NM_005609.4
p.G810G
c.2430C>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."