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

2 papers

NM_000127.3

p.R270W

c.808A>T

Surrounding Variants

1 paper

NM_000127.3

p.R270R

c.808A>C

1 paper

NM_000127.3

p.R270K

c.809G>A

3 papers

NM_000127.3

p.Y271H

c.811T>C

1 paper

NM_000127.3

p.K269fs

c.805_806fs

3 papers

NM_000127.3

p.Y271C

c.812A>G

1 paper

NM_000127.3

p.G268V

c.803G>T

1 paper

NM_000127.3

p.G268insFs

c.803_804insT

2 papers

NM_000127.3

p.G268E

c.803G>A

1 paper

NM_000127.3

p.K267delFs

c.800_801delCT

1 paper

NM_000127.3

p.L272delFs

c.814delG

1 paper

NM_000127.3

p.L272delFs

c.815delA

2 papers

NM_000127.3

p.T273S

c.817A>T