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.G45_L46del2

c.133_137del6

Surrounding Variants

1 paper

NM_000127.3

p.H47Y

c.139C>T

1 paper

NM_000127.3

p.H47D

c.139C>G

1 paper

NM_000127.3

p.L46_H47Fs

c.138_139delinsTCTFs

1 paper

NM_000127.3

p.L46delFs

c.138delC

1 paper

NM_000127.3

p.L46F

c.138G>T

1 paper

NM_000127.3

p.L46F

c.138G>C

2 papers

NM_000127.3

p.L46fs

c.136_137fs

1 paper

NM_000127.3

p.H48delFs

c.142delG

1 paper

NM_000127.3

p.H48Q

c.144C>G

1 paper

NM_000127.3

p.H48Q

c.144C>A

1 paper

NM_000127.3

p.N44fs

c.130_131fs

1 paper

NM_000127.3

p.S50fs

c.148_149fs