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.K603_W612delFs

c.1808_1836del29

Surrounding Variants

2 papers

NM_000127.3

p.T613M

c.1838C>T

1 paper

NM_000127.3

p.T613T

c.1839G>A

1 paper

NM_000127.3

p.W612*

c.1836G>A

1 paper

NM_000127.3

p.K603_W612Fs

c.1808_1836delinsTCCCAGTGGGATAFs

2 papers

NM_000127.3

p.N614fs

c.1840_1841fs

1 paper

NM_000127.3

p.W612L

c.1835G>T

1 paper

NM_000127.3

p.W612*

c.1835G>A

1 paper

NM_000127.3

p.N614N

c.1842C>T

2 papers

NM_000127.3

p.N614delFs

c.1841delT

1 paper

NM_000127.3

p.D615N

c.1843G>A

1 paper

NM_000127.3

p.D615_Y616insFs

c.1843_1846dup4

1 paper

NM_000127.3

p.Y616*

c.1848C>G