Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.R324*

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.R324*
c.970C>T
Surrounding Variants
1 paper
NM_004130.4
p.R321delFs
c.963delG
1 paper
NM_004130.4
p.E319V
c.956A>T
1 paper
NM_004130.4
p.Q329P
c.986A>C
2 papers
NM_004130.4
p.Y332_A335delFs
c.996_1005del10
2 papers
NM_004130.4
p.Y332*
c.996T>A
2 papers
NM_004130.4
p.Y332*
c.996T>G
1 paper
NM_004130.4
p.P309S
c.925C>T
1 paper
NM_004130.4
p.D339H
c.1015G>C
1 paper
NM_004130.4
p.D339Y
c.1015G>T
1 paper
NM_004130.4
p.N340K
c.1020C>A
1 paper
NM_004130.4
p.G306E
c.917G>A
1 paper
NM_004130.4
p.L305F
c.913C>T
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