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.A217_K218delFs

c.651_654del4

Surrounding Variants

1 paper

NM_000127.3

p.K218N

c.654A>T

1 paper

NM_000127.3

p.K218N

c.654A>C

2 papers

NM_000127.3

p.K218fs

c.652_653fs

1 paper

NM_000127.3

p.A217_K218Fs

c.651_654delinsTTTFs

5 papers

NM_000127.3

p.K218fs

c.652_653fs

5 papers

NM_000127.3

p.S220N

c.659G>A

1 paper

NM_000127.3

p.A217insFs

c.650_651ins4

1 paper

NM_000127.3

p.A217insFs

c.649_650ins4

1 paper

NM_000127.3

p.I221V

c.661A>G

1 paper

NM_000127.3

p.K218_I221del0

c.653_661del9

1 paper

NM_000127.3

p.L216fs

c.646_647fs

1 paper

NM_000127.3

p.M215_I221delFs

c.643_662del20