Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.Y21Y

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
1 paper
NM_173601.2
p.Y21Y
c.63C>T
Surrounding Variants
1 paper
NM_173601.2
p.A22A
c.66T>C
1 paper
NM_173601.2
p.S18S
c.54G>C
1 paper
NM_173601.2
p.L26L
c.78C>G
1 paper
NM_173601.2
p.L26L
c.78C>A
1 paper
NM_173601.2
p.F16S
c.47T>C
8 papers
NM_173601.2
p.V28M
c.82G>A
5 papers
NM_173601.2
p.V28E
c.83T>A
6 papers
NM_173601.2
p.G15S
c.43G>A
1 paper
NM_173601.2
p.A13V
c.38C>T
7 papers
NM_173601.2
p.A13P
c.37G>C
3 papers
NM_173601.2
p.A13T
c.37G>A
1 paper
NM_173601.2
p.V12L
c.34G>T
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