Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.D3N

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.D3N
c.7G>A
Surrounding Variants
3 papers
NM_004130.4
p.D3H
c.7G>C
2 papers
NM_004130.4
p.D3Splc
c.7+1G>A
1 paper
NM_004130.4
p.M1I
c.3G>A
3 papers
NM_004130.4
p.M1I
c.3G>C
1 paper
NM_004130.4
p.M1I
c.3G>T
5 papers
NM_004130.4
p.M1K
c.2T>A
1 paper
NM_004130.4
p.D3Splc
c.7+718T>G
1 paper
NM_004130.4
p.D3Splc
c.7+992T>G
6 papers
NM_004130.4
p.D3fs
c.7_8fs
1 paper
NM_004130.4
p.Q4*
c.10C>T
1 paper
NM_004130.4
p.A5P
c.13G>C
1 paper
NM_004130.4
p.A5S
c.13G>T
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