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.A61delFs

c.182delG

Surrounding Variants

1 paper

NM_000127.3

p.L62insFs

c.185_186insA

1 paper

NM_000127.3

p.D60delFs

c.180delG

1 paper

NM_000127.3

p.L62delFs

c.185delA

5 papers

NM_000127.3

p.P59delFs

c.176delG

1 paper

NM_000127.3

p.P64H

c.191C>A

1 paper

NM_000127.3

p.P64P

c.192C>T

2 papers

NM_000127.3

p.F58delFs

c.173delA

1 paper

NM_000127.3

p.F58insFs

c.173_174insG

1 paper

NM_000127.3

p.D60_P64del5

c.178_191del15

2 papers

NM_000127.3

p.F58fs

c.172_173fs

1 paper

NM_000127.3

p.F65delins

c.194_195delinsAA

2 papers

NM_000127.3

p.V66F

c.196G>T