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.A151delFs

c.453delC

Surrounding Variants

1 paper

NM_000127.3

p.C152R

c.454T>C

1 paper

NM_000127.3

p.A151_C152insFs

c.453_454insT

1 paper

NM_000127.3

p.A151fs

c.451_452fs

1 paper

NM_000127.3

p.L153F

c.457C>T

1 paper

NM_000127.3

p.C152delFs

c.456delG

1 paper

NM_000127.3

p.C152_L153delFs

c.454_457del4

1 paper

NM_000127.3

p.Q150R

c.449A>G

1 paper

NM_000127.3

p.S149delFs

c.447delG

2 papers

NM_000127.3

p.Q150*

c.448C>T

2 papers

NM_000127.3

p.L153_F154delFs

c.459_460delAG

2 papers

NM_000127.3

p.F154fs

c.460_461fs

1 paper

NM_000127.3

p.F154insFs

c.461dupT