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

4 papers

NM_000127.3

p.Q495*

c.1483C>T

Surrounding Variants

1 paper

NM_000127.3

p.P496S

c.1486C>T

4 papers

NM_000127.3

p.P496L

c.1487C>T

3 papers

NM_000127.3

p.S492_Q493delFs

c.1476_1477delGA

1 paper

NM_000127.3

p.V497fs

c.1489_1490fs

1 paper

NM_000127.3

p.P496del1

c.1486_1487delTGG

1 paper

NM_000127.3

p.Q493*

c.1477C>T

1 paper

NM_000127.3

p.S492delFs

c.1476delA

1 paper

NM_000127.3

p.V497V

c.1491G>C

1 paper

NM_000127.3

p.V497delFs

c.1490delA

1 paper

NM_000127.3

p.V491fs

c.1471_1472fs

1 paper

NM_000127.3

p.L490insFs

c.1469dupT

5 papers

NM_000127.3

p.L490fs

c.1468_1469fs