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.S197fs

c.589_590fs

Surrounding Variants

1 paper

NM_000127.3

p.S197S

c.591C>T

2 papers

NM_000127.3

p.S197delFs

c.591delG

1 paper

NM_000127.3

p.S197A

c.589T>G

1 paper

NM_000127.3

p.G198V

c.593G>T

1 paper

NM_000127.3

p.W200insFs

c.598_599insG

6 papers

NM_000127.3

p.W200*

c.599G>A

6 papers

NM_000127.3

p.W200*

c.600G>A

1 paper

NM_000127.3

p.P201L

c.602C>T

1 paper

NM_000127.3

p.L191_F193delFs

c.573_577del5

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