Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.I125T

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.I125T
c.374T>C
Surrounding Variants
1 paper
NM_018446.4
p.Y123*
c.369C>G
1 paper
NM_018446.4
p.Y123*
c.369C>A
1 paper
NM_018446.4
p.N127I
c.380A>T
1 paper
NM_018446.4
p.K131T
c.392A>C
1 paper
NM_018446.4
p.K131fs
c.391_392fs
1 paper
NM_018446.4
p.G135E
c.404G>A
1 paper
NM_018446.4
p.S115N
c.344G>A
1 paper
NM_018446.4
p.V137A
c.410T>C
1 paper
NM_018446.4
p.E139K
c.415G>A
1 paper
NM_018446.4
p.R110Splc
c.330-2A>C
2 papers
NM_018446.4
p.P149L
c.446C>T
1 paper
NM_018446.4
p.P149_L150Splc
c.447+1G>C
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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."