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.V293fs

c.877_878fs

Surrounding Variants

3 papers

NM_000127.3

p.V293L

c.877G>T

1 paper

NM_000127.3

p.V293insFs

c.877_878insT

3 papers

NM_000127.3

p.V293L

c.877G>C

1 paper

NM_000127.3

p.V293M

c.877G>A

2 papers

NM_000127.3

p.V292V

c.876T>C

1 paper

NM_000127.3

p.V292I

c.874G>A

1 paper

NM_000127.3

p.E290D

c.870G>T

1 paper

NM_000127.3

p.E290D

c.870G>C

1 paper

NM_000127.3

p.E290*

c.868G>T

1 paper

NM_000127.3

p.N288delFs

c.864delG

1 paper

NM_000127.3

p.T297fs

c.889_890fs

1 paper

NM_000127.3

p.N288fs

c.862_863fs