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.E39*

c.115G>T

Surrounding Variants

1 paper

NM_000127.3

p.E38_E39insFs

c.114_115insTT

2 papers

NM_000127.3

p.E39delFs

c.115delC

2 papers

NM_000127.3

p.E39E

c.117A>G

1 paper

NM_000127.3

p.E38*

c.112G>T

1 paper

NM_000127.3

p.E39del1

c.115_116delTTC

1 paper

NM_000127.3

p.H40R

c.119A>G

2 papers

NM_000127.3

p.H40delFs

c.118delG

1 paper

NM_000127.3

p.R37K

c.110G>A

1 paper

NM_000127.3

p.S41N

c.122G>A

1 paper

NM_000127.3

p.G42fs

c.124_125fs

1 paper

NM_000127.3

p.G42D

c.125G>A

1 paper

NM_000127.3

p.G42delFs

c.125delC