Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.W336R

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.W336R
c.1006T>C
Surrounding Variants
2 papers
NM_018446.4
p.W336R
c.1006T>A
1 paper
NM_018446.4
p.W336*
c.1007G>A
1 paper
NM_018446.4
p.H332L
c.995A>T
1 paper
NM_018446.4
p.Y342*
c.1026T>G
1 paper
NM_018446.4
p.Y342*
c.1026T>A
1 paper
NM_018446.4
p.D344H
c.1030G>C
1 paper
NM_018446.4
p.P352T
c.1054C>A
1 paper
NM_018446.4
p.D353Y
c.1057G>T
2 papers
NM_018446.4
p.Q319E
c.955C>G
1 paper
NM_018446.4
p.N359I
c.1076A>T
2 papers
NM_018446.4
p.R362*
c.1084C>T
1 paper
NM_018446.4
p.G309Splc
c.926-1G>A
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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."