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.S76_S77delFs

c.228_229delTG

Surrounding Variants

1 paper

NM_000127.3

p.S76delFs

c.227delG

1 paper

NM_000127.3

p.V78fs

c.232_233fs

1 paper

NM_000127.3

p.V78insFs

c.232dupG

2 papers

NM_000127.3

p.I80delFs

c.238delT

1 paper

NM_000127.3

p.E74*

c.220G>T

3 papers

NM_000127.3

p.N73delFs

c.218delT

1 paper

NM_000127.3

p.N73T

c.218A>C

2 papers

NM_000127.3

p.N73fs

c.217_218fs

1 paper

NM_000127.3

p.P82S

c.244C>T

1 paper

NM_000127.3

p.P82insFs

c.244_245insG

1 paper

NM_000127.3

p.P82insFs

c.245_246insG

1 paper

NM_000127.3

p.E72G

c.215A>G