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

2 papers

NM_000127.3

p.D162G

c.485A>G

Surrounding Variants

1 paper

NM_000127.3

p.D162N

c.484G>A

1 paper

NM_000127.3

p.D162fs

c.484_485fs

1 paper

NM_000127.3

p.L161delFs

c.482delA

1 paper

NM_000127.3

p.L161*

c.482T>G

1 paper

NM_000127.3

p.L161S

c.482T>C

1 paper

NM_000127.3

p.L161*

c.482T>A

5 papers

NM_000127.3

p.D164H

c.490G>C

1 paper

NM_000127.3

p.D164N

c.490G>A

1 paper

NM_000127.3

p.D162_R163delFs

c.486_489del4

1 paper

NM_000127.3

p.D164E

c.492C>G

1 paper

NM_000127.3

p.D164E

c.492C>A

1 paper

NM_000127.3

p.D164delFs

c.490_491delTC