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.N229I

c.686A>T

Surrounding Variants

1 paper

NM_000127.3

p.P228_N229Fs

c.684_685delinsTFs

1 paper

NM_000127.3

p.P228P

c.684C>A

1 paper

NM_000127.3

p.R227fs

c.679_680fs

4 papers

NM_000127.3

p.R227delFs

c.680delC

1 paper

NM_000127.3

p.R227P

c.680G>C

3 papers

NM_000127.3

p.R227delFs

c.679delG

2 papers

NM_000127.3

p.D231V

c.692A>T

3 papers

NM_000127.3

p.R227*

c.679C>T

3 papers

NM_000127.3

p.R227fs

c.679_680fs

2 papers

NM_000127.3

p.F226L

c.678C>A

1 paper

NM_000127.3

p.S233fs

c.697_698fs

1 paper

NM_000127.3

p.S233delFs

c.698delG