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.S31delFs

c.92delG

Surrounding Variants

1 paper

NM_000127.3

p.S31L

c.92C>T

1 paper

NM_000127.3

p.A30_R32delFs

c.89_95del7

1 paper

NM_000127.3

p.A30fs

c.88_89fs

2 papers

NM_000127.3

p.A30delFs

c.88delC

1 paper

NM_000127.3

p.S33fs

c.97_98fs

1 paper

NM_000127.3

p.R32insFs

c.96dupG

1 paper

NM_000127.3

p.F28L

c.84T>A

1 paper

NM_000127.3

p.F28S

c.83T>C

1 paper

NM_000127.3

p.F28I

c.82T>A

1 paper

NM_000127.3

p.Q27del1

c.79_80delCTG

1 paper

NM_000127.3

p.Q27P

c.80A>C

3 papers

NM_000127.3

p.Q27*

c.79C>T