Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.Y264*

GXYLT1

99 papers

RefSeq Summary

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (...

Pfam Domains

Glyco_transf_8aa 116–364UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glucoside xylosyltransferase 1

HGNC Previous Symbol

GLT8D3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_173601.2
p.Y264*
c.792T>A
Surrounding Variants
4 papers
NM_173601.2
p.Y264*
c.792T>G
10 papers
NM_173601.2
p.Y264N
c.790T>A
8 papers
NM_173601.2
p.Y265C
c.794A>G
6 papers
NM_173601.2
p.R261S
c.783G>T
6 papers
NM_173601.2
p.R261S
c.783G>C
5 papers
NM_173601.2
p.R258L
c.773G>T
1 paper
NM_173601.2
p.R258C
c.772C>T
5 papers
NM_173601.2
p.N257S
c.770A>G
5 papers
NM_173601.2
p.M277T
c.830T>C
1 paper
NM_173601.2
p.R252*
c.754C>T
4 papers
NM_173601.2
p.M277I
c.831G>T
4 papers
NM_173601.2
p.M277I
c.831G>C
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