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.G212fs

c.634_635fs

Surrounding Variants

5 papers

NM_000127.3

p.G212A

c.635G>C

2 papers

NM_000127.3

p.G212delFs

c.635delC

2 papers

NM_000127.3

p.Q213*

c.637C>T

2 papers

NM_000127.3

p.I211insFs

c.631_632insC

1 paper

NM_000127.3

p.D210N

c.628G>A

1 paper

NM_000127.3

p.M215K

c.644T>A

1 paper

NM_000127.3

p.G208A

c.623G>C

1 paper

NM_000127.3

p.G198_V207delFs

c.594_621del28

1 paper

NM_000127.3

p.V207delFs

c.620delA

1 paper

NM_000127.3

p.L216fs

c.646_647fs

1 paper

NM_000127.3

p.A217insFs

c.649_650ins4

1 paper

NM_000127.3

p.V207M

c.619G>A