Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.S212*

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
3 papers
NM_173601.2
p.S212*
c.635C>A
Surrounding Variants
3 papers
NM_173601.2
p.S212*
c.635C>G
1 paper
NM_173601.2
p.E209D
c.627A>T
1 paper
NM_173601.2
p.E209D
c.627A>C
1 paper
NM_173601.2
p.V216A
c.647T>C
1 paper
NM_173601.2
p.D217N
c.649G>A
3 papers
NM_173601.2
p.I220V
c.658A>G
4 papers
NM_173601.2
p.I220S
c.659T>G
5 papers
NM_173601.2
p.F222_L223insFs
c.666_667insAA
3 papers
NM_173601.2
p.L223fs
c.667_668fs
1 paper
NM_173601.2
p.R224*
c.670C>T
4 papers
NM_173601.2
p.L223_R224del1
c.668_670delGTA
2 papers
NM_173601.2
p.L223_R224del2
c.667_671del6
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