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

2 papers

NM_000127.3

p.S222Fs

c.665delinsTTFs

Surrounding Variants

1 paper

NM_000127.3

p.S222I

c.665G>T

1 paper

NM_000127.3

p.A217_S222delFs

c.651_664del14

1 paper

NM_000127.3

p.K218_S222delFs

c.652_665del14

2 papers

NM_000127.3

p.S222Fs

c.664delinsTTTFs

2 papers

NM_000127.3

p.A217_S222Fs

c.651_664delinsTTTFs

1 paper

NM_000127.3

p.M215_I221delFs

c.643_662del20

1 paper

NM_000127.3

p.T223A

c.667A>G

2 papers

NM_000127.3

p.M215_T223Fs

c.645_667delinsCFs

1 paper

NM_000127.3

p.K218_I221del0

c.653_661del9

1 paper

NM_000127.3

p.I221V

c.661A>G

5 papers

NM_000127.3

p.S220N

c.659G>A

1 paper

NM_000127.3

p.E224E

c.672A>G