Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.R126S

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
7 papers
NM_173601.2
p.R126S
c.378A>C
Surrounding Variants
7 papers
NM_173601.2
p.R126S
c.378A>T
5 papers
NM_173601.2
p.A122T
c.364G>A
1 paper
NM_173601.2
p.V120E
c.359T>A
1 paper
NM_173601.2
p.M116_L118del0
c.346_354del9
6 papers
NM_173601.2
p.H117Q
c.351T>G
6 papers
NM_173601.2
p.H117Q
c.351T>A
4 papers
NM_173601.2
p.H117L
c.350A>T
1 paper
NM_173601.2
p.S136*
c.407C>G
1 paper
NM_173601.2
p.S136*
c.407C>A
2 papers
NM_173601.2
p.S107R
c.321T>G
2 papers
NM_173601.2
p.S107R
c.321T>A
2 papers
NM_173601.2
p.S107R
c.319A>C
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