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

3 papers

NM_000127.3

p.Q121*

c.361C>T

Surrounding Variants

1 paper

NM_000127.3

p.P120insFs

c.360dupA

1 paper

NM_000127.3

p.P120P

c.360A>G

1 paper

NM_000127.3

p.Q121fs

c.361_362fs

1 paper

NM_000127.3

p.Q121delFs

c.362delT

4 papers

NM_000127.3

p.Q122*

c.364C>T

1 paper

NM_000127.3

p.P120fs

c.358_359fs

5 papers

NM_000127.3

p.Y119*

c.357C>G

1 paper

NM_000127.3

p.Y119_P120insFs

c.357_358insTA

5 papers

NM_000127.3

p.Y119*

c.357C>A

1 paper

NM_000127.3

p.Q122H

c.366A>T

1 paper

NM_000127.3

p.Q122Q

c.366A>G

1 paper

NM_000127.3

p.Q122H

c.366A>C