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

3 papers

NM_000127.3

p.W184*

c.551G>A

Surrounding Variants

4 papers

NM_000127.3

p.W184*

c.552G>A

1 paper

NM_000127.3

p.H182delFs

c.546delG

11 papers

NM_000127.3

p.H182Y

c.544C>T

1 paper

NM_000127.3

p.N185_G187delFs

c.553_560del8

1 paper

NM_000127.3

p.L181fs

c.541_542fs

4 papers

NM_000127.3

p.S180delFs

c.538_539delCT

1 paper

NM_000127.3

p.G187delFs

c.561delA

3 papers

NM_000127.3

p.S180N

c.539G>A

1 paper

NM_000127.3

p.R188S

c.564G>T

1 paper

NM_000127.3

p.R188S

c.564G>C

1 paper

NM_000127.3

p.Q179fs

c.535_536fs

1 paper

NM_000127.3

p.Q179insFs

c.536dupA