Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.R402delFs

GYS1

135 papers

RefSeq Summary

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associate...

Pfam Domains

Glycogen_synaa 31–663UCSCGlycogen synthase

Gene Aliases

HGNC Name

glycogen synthase 1

HGNC Alias Symbol

GSY

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002103.5
p.R402delFs
c.1204delT
Surrounding Variants
1 paper
NM_002103.5
p.R402fs
c.1204_1205fs
1 paper
NM_002103.5
p.G401R
c.1201G>C
1 paper
NM_002103.5
p.G401R
c.1201G>A
1 paper
NM_002103.5
p.V396E
c.1187T>A
1 paper
NM_002103.5
p.A393V
c.1178C>T
2 papers
NM_002103.5
p.V410Splc
c.1230-2A>G
15 papers
NM_002103.5
p.M416V
c.1246A>G
5 papers
NM_002103.5
p.P442A
c.1324C>G
1 paper
NM_002103.5
p.W390Splc
c.1169+1G>C
1 paper
NM_002103.5
p.G382S
c.1144G>A
7 papers
NM_002103.5
p.R462*
c.1384C>T
6 papers
NM_002103.5
p.G464S
c.1390G>A
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."