Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.F55delFs

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
2 papers
NM_004130.4
p.F55delFs
c.164_165delTT
Surrounding Variants
1 paper
NM_004130.4
p.V54_F55delFs
c.162_163delCT
1 paper
NM_004130.4
p.V54insFs
c.160dupG
3 papers
NM_004130.4
p.D56H
c.166G>C
1 paper
NM_004130.4
p.D56fs
c.166_167fs
1 paper
NM_004130.4
p.E52G
c.155A>G
1 paper
NM_004130.4
p.E52K
c.154G>A
1 paper
NM_004130.4
p.I59V
c.175A>G
1 paper
NM_004130.4
p.M60L
c.178A>C
1 paper
NM_004130.4
p.R48Splc
c.144-2A>G
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
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