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

17 papers

NM_000127.3

p.C355C

c.1065C>T

Surrounding Variants

1 paper

NM_000127.3

p.C355W

c.1065C>G

1 paper

NM_000127.3

p.C355_V356insFs

c.1065_1066ins26

1 paper

NM_000127.3

p.C355*

c.1065C>A

1 paper

NM_000127.3

p.C355F

c.1064G>T

1 paper

NM_000127.3

p.C355insFs

c.1064_1065ins5

1 paper

NM_000127.3

p.V356L

c.1066G>C

3 papers

NM_000127.3

p.V356I

c.1066G>A

3 papers

NM_000127.3

p.C355Y

c.1064G>A

1 paper

NM_000127.3

p.V356fs

c.1066_1067fs

2 papers

NM_000127.3

p.C355R

c.1063T>C

1 paper

NM_000127.3

p.A354A

c.1062C>T

1 paper

NM_000127.3

p.C355_V356delFs

c.1063_1067del5