Varaico: Literature-Extracted Genetic Variants

EXT1

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.C298Y

c.893G>A

Surrounding Variants

1 paper

NM_000127.3

p.C298*

c.894C>A

1 paper

NM_000127.3

p.T297fs

c.889_890fs

1 paper

NM_000127.3

p.K302insFs

c.906dupA

2 papers

NM_000127.3

p.K302delFs

c.906delT

2 papers

NM_000127.3

p.D303fs

c.907_908fs

1 paper

NM_000127.3

p.D303insFs

c.907_908insGC

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

1 paper

NM_000127.3

p.V293fs

c.877_878fs

2 papers

NM_000127.3

p.V292V

c.876T>C