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.K126fs

c.376_377fs

Surrounding Variants

3 papers

NM_000127.3

p.K126fs

c.376_377fs

1 paper

NM_000127.3

p.E125insFs

c.373dupG

2 papers

NM_000127.3

p.E125*

c.373G>T

1 paper

NM_000127.3

p.E125fs

c.373_374fs

1 paper

NM_000127.3

p.G124G

c.372G>A

1 paper

NM_000127.3

p.E129*

c.385G>T

2 papers

NM_000127.3

p.K123_G124delFs

c.369_370delCT

2 papers

NM_000127.3

p.G124fs

c.370_371fs

1 paper

NM_000127.3

p.K123_G124Fs

c.369_370delinsTFs

3 papers

NM_000127.3

p.Q122delFs

c.365delT

3 papers

NM_000127.3

p.K123fs

c.367_368fs

3 papers

NM_000127.3

p.K123Fs

c.368_369delinsCFs