Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.R56*

GLT8D1

49 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [...

Pfam Domains

Glyco_transf_8aa 67–340UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycosyltransferase 8 domain containing 1

HGNC Alias Symbols

AD-017; FLJ14611

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018446.4
p.R56*
c.166C>T
Surrounding Variants
1 paper
NM_018446.4
p.R56R
c.166C>A
1 paper
NM_018446.4
p.G61R
c.181G>C
1 paper
NM_018446.4
p.G61R
c.181G>A
1 paper
NM_018446.4
p.Q63fs
c.187_188fs
1 paper
NM_018446.4
p.E64Q
c.190G>C
1 paper
NM_018446.4
p.V68L
c.202G>T
1 paper
NM_018446.4
p.V68L
c.202G>C
1 paper
NM_018446.4
p.I42fs
c.124_125fs
1 paper
NM_018446.4
p.I70V
c.208A>G
5 papers
NM_018446.4
p.I70T
c.209T>C
1 paper
NM_018446.4
p.G41insFs
c.122dupG
7 papers
NM_018446.4
p.G78W
c.232G>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."