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.R188S

c.564G>T

Surrounding Variants

1 paper

NM_000127.3

p.R188S

c.564G>C

1 paper

NM_000127.3

p.N189Y

c.565A>T

1 paper

NM_000127.3

p.G187delFs

c.561delA

1 paper

NM_000127.3

p.N185_G187delFs

c.553_560del8

2 papers

NM_000127.3

p.L191*

c.572T>G

1 paper

NM_000127.3

p.L191S

c.572T>C

2 papers

NM_000127.3

p.L191*

c.572T>A

4 papers

NM_000127.3

p.W184*

c.552G>A

3 papers

NM_000127.3

p.W184*

c.551G>A

1 paper

NM_000127.3

p.L191_F193delFs

c.573_577del5

1 paper

NM_000127.3

p.H182delFs

c.546delG

11 papers

NM_000127.3

p.H182Y

c.544C>T