Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.R216*

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
4 papers
NM_004130.4
p.R216*
c.646C>T
Surrounding Variants
1 paper
NM_004130.4
p.F213F
c.639C>T
4 papers
NM_004130.4
p.H212Y
c.634C>T
1 paper
NM_004130.4
p.V211M
c.631G>A
1 paper
NM_004130.4
p.V211fs
c.631_632fs
1 paper
NM_004130.4
p.V211delFs
c.631delG
1 paper
NM_004130.4
p.Y224D
c.670T>G
1 paper
NM_004130.4
p.G205S
c.613G>A
1 paper
NM_004130.4
p.T228S
c.682A>T
1 paper
NM_004130.4
p.T228I
c.683C>T
1 paper
NM_004130.4
p.K232*
c.694A>T
1 paper
NM_004130.4
p.S233_E234delFs
c.699_700delTG
1 paper
NM_004130.4
p.L246F
c.736C>T
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