Varaico: Literature-Extracted Genetic Variants

Gene:GYG2
Variant:p.C91W

GYG2

25 papers

RefSeq Summary

This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the mu...

Pfam Domains

Glyco_transf_8aa 39–257UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycogenin 2

HGNC Alias Symbol

GN-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079855.2
p.C91W
c.273T>G
Surrounding Variants
1 paper
NM_001079855.2
p.L86R
c.257T>G
1 paper
NM_001079855.2
p.E59G
c.176A>G
1 paper
NM_001079855.2
p.V51I
c.151G>A
1 paper
NM_001079855.2
p.E115E
c.345G>A
1 paper
NM_003918.3
p.D163fs
c.487_488fs
1 paper
NM_001079855.2
p.V138M
c.412G>A
1 paper
NM_001079855.2
p.H146Y
c.436C>T
1 paper
NM_001079855.2
p.P201S
c.601C>T
1 paper
NM_001079855.2
p.Q205K
c.613C>A
1 paper
NM_001079855.2
p.Q205*
c.613C>T
1 paper
NM_001079855.2
p.W222S
c.665G>C
1 paper
NM_001079855.2
p.H250Y
c.748C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."