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.V575L

c.1723G>T

Surrounding Variants

2 papers

NM_000127.3

p.V575L

c.1723G>C

2 papers

NM_000127.3

p.V575delFs

c.1723delC

1 paper

NM_000127.3

p.E574_V575Splc

c.1723-1G>T

2 papers

NM_000127.3

p.E574_V575Splc

c.1723-2A>G

1 paper

NM_000127.3

p.D576N

c.1726G>A

1 paper

NM_000127.3

p.A578T

c.1732G>A

1 paper

NM_000127.3

p.F579V

c.1735T>G

1 paper

NM_000127.3

p.F579fs

c.1735_1736fs

1 paper

NM_000127.3

p.F579delFs

c.1736_1737delGA

2 papers

NM_000127.3

p.W582*

c.1745G>A

1 paper

NM_000127.3

p.W582C

c.1746G>T

1 paper

NM_000127.3

p.W582C

c.1746G>C