Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.D163fs

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
8 papers
NM_004130.4
p.D163fs
c.487_488fs
Surrounding Variants
1 paper
NM_004130.4
p.D163fs
c.487_488fs
1 paper
NM_004130.4
p.Q164_G165del2
c.490_494del6
11 papers
NM_004130.4
p.G162delFs
c.484delG
1 paper
NM_004130.4
p.G162_D163del2
c.484_488del6
1 paper
NM_004130.4
p.W174R
c.520T>C
1 paper
NM_004130.4
p.L183L
c.547C>T
1 paper
NM_004130.4
p.I186F
c.556A>T
1 paper
NM_004130.4
p.L189L
c.567A>T
1 paper
NM_004130.4
p.S193F
c.578C>T
5 papers
NM_004130.4
p.Y195F
c.584A>T
1 paper
NM_004130.4
p.Y195*
c.585C>A
1 paper
NM_004130.4
p.Y195*
c.585C>G
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