Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.K86Q

GYG1

98 papers

RefSeq Summary

This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylatio...

Pfam Domains

Glyco_transf_8aa 6–120UCSCGlycosyl transferase family 8
Glyco_transf_8aa 116–224UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycogenin 1

HGNC Previous Name

glycogenin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004130.4
p.K86Q
c.256A>C
Surrounding Variants
10 papers
NM_004130.4
p.T83M
c.248C>T
1 paper
NM_004130.4
p.K97E
c.289A>G
1 paper
NM_004130.4
p.V99A
c.296T>C
17 papers
NM_004130.4
p.D102H
c.304G>C
1 paper
NM_004130.4
p.D68D
c.204T>C
1 paper
NM_004130.4
p.D68N
c.202G>A
1 paper
NM_004130.4
p.D68delFs
c.203delA
1 paper
NM_004130.4
p.D68fs
c.202_203fs
1 paper
NM_004130.4
p.M60L
c.178A>C
1 paper
NM_004130.4
p.I59V
c.175A>G
3 papers
NM_004130.4
p.D56H
c.166G>C
1 paper
NM_004130.4
p.D56fs
c.166_167fs
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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."