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.P64_L71del8

c.190_212del24

Surrounding Variants

3 papers

NM_000127.3

p.E72*

c.214G>T

1 paper

NM_000127.3

p.E72_N73insT

c.214_218ins3

3 papers

NM_000127.3

p.E72K

c.214G>A

1 paper

NM_000127.3

p.E72G

c.215A>G

1 paper

NM_000127.3

p.L71*

c.212T>A

2 papers

NM_000127.3

p.N73fs

c.217_218fs

1 paper

NM_000127.3

p.N73T

c.218A>C

3 papers

NM_000127.3

p.N73delFs

c.218delT

1 paper

NM_000127.3

p.E74*

c.220G>T

2 papers

NM_000127.3

p.Q70*

c.208C>T

4 papers

NM_000127.3

p.W68*

c.204G>A

1 paper

NM_000127.3

p.W68insFs

c.202dupT