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

1–12 of 1081 variants

38 papers

NM_000127.3

p.R340H

c.1019G>A

32 papers

NM_000127.3

p.R340C

c.1018C>T

32 papers

NM_000127.3

p.L490delFs

c.1469delA

20 papers

NM_000127.3

p.E587E

c.1761G>A

18 papers

NM_000127.3

p.G339D

c.1016G>A

17 papers

NM_000127.3

p.C355C

c.1065C>T

14 papers

NM_000127.3

p.R340L

c.1019G>T

14 papers

NM_000127.3

p.L490fs

c.1468_1469fs

13 papers

NM_000127.3

p.P477P

c.1431C>T

13 papers

NM_000127.3

p.L490insFs

c.1468dupC

11 papers

NM_000127.3

p.H182Y

c.544C>T

10 papers

NM_000127.3

p.R83insFs

c.247dupC