Varaico: Literature-Extracted Genetic Variants

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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.H485delFs

c.1454delT

Surrounding Variants

1 paper

NM_000127.3

p.H485fs

c.1453_1454fs

10 papers

NM_000127.3

p.A486V

c.1457C>T

2 papers

NM_000127.3

p.A486insFs

c.1457_1458insG

1 paper

NM_000127.3

p.A486insFs

c.1457_1458insC

1 paper

NM_000127.3

p.A486fs

c.1456_1457fs

1 paper

NM_000127.3

p.V487L

c.1459G>T

1 paper

NM_000127.3

p.V487L

c.1459G>C

1 paper

NM_000127.3

p.V487A

c.1460T>C

1 paper

NM_000127.3

p.A486del1

c.1456_1457delCGC

1 paper

NM_000127.3

p.V487delFs

c.1460delA

1 paper

NM_000127.3

p.V483fs

c.1447_1448fs

1 paper

NM_000127.3

p.T488fs

c.1462_1463fs