Varaico: Literature-Extracted Genetic Variants

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432 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the ty...

Pfam Domains

Exostosin_GT47aa 110–396UCSCExostosin GT47 domain

Glyco_transf_64aa 480–729UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin glycosyltransferase 1

HGNC Previous Symbols

LGCR; LGS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000127.3

p.S596fs

c.1786_1787fs

Surrounding Variants

2 papers

NM_000127.3

p.R595delFs

c.1784_1785delGC

1 paper

NM_000127.3

p.S596I

c.1787G>T

1 paper

NM_000127.3

p.S596delFs

c.1786delT

1 paper

NM_000127.3

p.R595fs

c.1783_1784fs

1 paper

NM_000127.3

p.A594V

c.1781C>T

1 paper

NM_000127.3

p.F598_W599insG

c.1792_1796ins3

2 papers

NM_000127.3

p.W599*

c.1796G>A

3 papers

NM_000127.3

p.Y592*

c.1776C>G

3 papers

NM_000127.3

p.Y592*

c.1776C>A

6 papers

NM_000127.3

p.W599*

c.1797G>A

1 paper

NM_000127.3

p.G591delFs

c.1773delC

1 paper

NM_000127.3

p.G591V

c.1772G>T