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.S233delFs

c.698delG

Surrounding Variants

1 paper

NM_000127.3

p.I234F

c.700A>T

1 paper

NM_000127.3

p.S233fs

c.697_698fs

1 paper

NM_000127.3

p.L236fs

c.706_707fs

2 papers

NM_000127.3

p.D231V

c.692A>T

1 paper

NM_000127.3

p.L236insFs

c.706dupC

1 paper

NM_000127.3

p.L236_F237delFs

c.708_709delAG

1 paper

NM_000127.3

p.N229I

c.686A>T

1 paper

NM_000127.3

p.S238delFs

c.712delA

1 paper

NM_000127.3

p.F237_S238delFs

c.709_712del4

1 paper

NM_000127.3

p.P228_N229Fs

c.684_685delinsTFs

3 papers

NM_000127.3

p.S238delFs

c.713delG

1 paper

NM_000127.3

p.P228P

c.684C>A