Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.T251M

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
1 paper
NM_018446.4
p.T251M
c.752C>T
Surrounding Variants
1 paper
NM_018446.4
p.R255*
c.763C>T
1 paper
NM_018446.4
p.R255Q
c.764G>A
1 paper
NM_018446.4
p.Q256*
c.766C>T
1 paper
NM_018446.4
p.Q261*
c.781C>T
1 paper
NM_018446.4
p.T238S
c.713C>G
1 paper
NM_018446.4
p.T238S
c.712A>T
1 paper
NM_018446.4
p.K267delFs
c.801delT
1 paper
NM_018446.4
p.E271Splc
c.812+1G>A
1 paper
NM_018446.4
p.R230C
c.688C>T
1 paper
NM_018446.4
p.Y216C
c.647A>G
1 paper
NM_018446.4
p.E271K
c.811G>A
2 papers
NM_018446.4
p.I290M
c.870C>G
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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."