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

38 papers

NM_000127.3

p.R340H

c.1019G>A

Surrounding Variants

14 papers

NM_000127.3

p.R340L

c.1019G>T

4 papers

NM_000127.3

p.R340P

c.1019G>C

32 papers

NM_000127.3

p.R340C

c.1018C>T

3 papers

NM_000127.3

p.R340G

c.1018C>G

8 papers

NM_000127.3

p.R340S

c.1018C>A

4 papers

NM_000127.3

p.R341G

c.1021A>G

2 papers

NM_000127.3

p.G339V

c.1016G>T

1 paper

NM_000127.3

p.R341T

c.1022G>C

18 papers

NM_000127.3

p.G339D

c.1016G>A

1 paper

NM_000127.3

p.R341K

c.1022G>A

1 paper

NM_000127.3

p.R341delFs

c.1021delT

3 papers

NM_000127.3

p.R341S

c.1023G>T