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

2 papers

NM_000127.3

p.R605W

c.1813C>T

Surrounding Variants

2 papers

NM_000127.3

p.R605Q

c.1814G>A

1 paper

NM_000127.3

p.E604*

c.1810G>T

4 papers

NM_000127.3

p.W606*

c.1817G>A

4 papers

NM_000127.3

p.W606*

c.1818G>A

1 paper

NM_000127.3

p.K603*

c.1807A>T

1 paper

NM_000127.3

p.G607delFs

c.1820delC

6 papers

NM_000127.3

p.W599*

c.1797G>A

2 papers

NM_000127.3

p.W599*

c.1796G>A

1 paper

NM_000127.3

p.F598_W599insG

c.1792_1796ins3

1 paper

NM_000127.3

p.W612L

c.1835G>T

1 paper

NM_000127.3

p.W612*

c.1835G>A

1 paper

NM_000127.3

p.W612*

c.1836G>A