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

10 papers

NM_000127.3

p.R83insFs

c.247dupC

Surrounding Variants

1 paper

NM_000127.3

p.R83insFs

c.248_249insA

4 papers

NM_000127.3

p.R83delFs

c.247delG

2 papers

NM_000127.3

p.R83fs

c.247_248fs

2 papers

NM_000127.3

p.R83fs

c.247_248fs

2 papers

NM_000127.3

p.Q84fs

c.250_251fs

6 papers

NM_000127.3

p.Q84*

c.250C>T

4 papers

NM_000127.3

p.R83delFs

c.249delC

1 paper

NM_000127.3

p.P82insFs

c.245_246insG

1 paper

NM_000127.3

p.P82S

c.244C>T

1 paper

NM_000127.3

p.P82insFs

c.244_245insG

2 papers

NM_000127.3

p.I80delFs

c.238delT

1 paper

NM_000127.3

p.D87G

c.260A>G