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.P168P

c.504T>C

Surrounding Variants

2 papers

NM_000127.3

p.S167L

c.500C>T

1 paper

NM_000127.3

p.S167*

c.500C>G

2 papers

NM_000127.3

p.S167*

c.500C>A

1 paper

NM_000127.3

p.L166L

c.498G>A

2 papers

NM_000127.3

p.L166*

c.497T>A

3 papers

NM_000127.3

p.Q165delFs

c.495delC

7 papers

NM_000127.3

p.H172Y

c.514C>T

4 papers

NM_000127.3

p.Q165*

c.493C>T

1 paper

NM_000127.3

p.Q165E

c.493C>G

1 paper

NM_000127.3

p.D164del1

c.490_491delGTC

1 paper

NM_000127.3

p.D164E

c.492C>G

1 paper

NM_000127.3

p.D164E

c.492C>A