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.P477insFs

c.1430_1431insT

Surrounding Variants

1 paper

NM_000127.3

p.P477L

c.1430C>T

1 paper

NM_000127.3

p.P477R

c.1430C>G

13 papers

NM_000127.3

p.P477P

c.1431C>T

3 papers

NM_000127.3

p.P477_S478insFs

c.1431_1432insT

1 paper

NM_000127.3

p.P477fs

c.1429_1430fs

1 paper

NM_000127.3

p.P477fs

c.1429_1430fs

1 paper

NM_000127.3

p.S478insFs

c.1432_1433ins7

8 papers

NM_000127.3

p.P477insFs

c.1431dupC

7 papers

NM_000127.3

p.P477delFs

c.1431delG

1 paper

NM_000127.3

p.P477delFs

c.1430_1431delGG

5 papers

NM_000127.3

p.S478fs

c.1432_1433fs

2 papers

NM_000127.3

p.S478insFs

c.1432dupT