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.E318K

c.952G>A

Surrounding Variants

1 paper

NM_000127.3

p.E318*

c.952G>T

1 paper

NM_000127.3

p.N316del1

c.946_947delGTT

2 papers

NM_000127.3

p.Y319*

c.957T>G

2 papers

NM_000127.3

p.Y319*

c.957T>A

4 papers

NM_000127.3

p.N316S

c.947A>G

2 papers

NM_000127.3

p.E320Q

c.958G>C

1 paper

NM_000127.3

p.N316D

c.946A>G

5 papers

NM_000127.3

p.R314delFs

c.940_941delCT

1 paper

NM_000127.3

p.E318_Y319delFs

c.954_957del4

3 papers

NM_000127.3

p.D315fs

c.943_944fs

1 paper

NM_000127.3

p.R314_D315insFs

c.942_943insT

1 paper

NM_000127.3

p.R314fs

c.940_941fs