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.F114_K115insTT

c.340_344ins6

Surrounding Variants

1 paper

NM_000127.3

p.N112insFs

c.335_336insA

3 papers

NM_000127.3

p.N112delFs

c.335delT

1 paper

NM_000127.3

p.K115delFs

c.345delT

1 paper

NM_000127.3

p.N112fs

c.334_335fs

1 paper

NM_000127.3

p.Y117fs

c.349_350fs

2 papers

NM_000127.3

p.K111*

c.331A>T

1 paper

NM_000127.3

p.V116_Y117insFs

c.348_349insCT

5 papers

NM_000127.3

p.Y117*

c.351C>G

3 papers

NM_000127.3

p.Y117*

c.351C>A

1 paper

NM_000127.3

p.V118insFs

c.352_353insC

3 papers

NM_000127.3

p.K110*

c.328A>T

1 paper

NM_000127.3

p.C109F

c.326G>T