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.E247*

c.739G>T

Surrounding Variants

2 papers

NM_000127.3

p.R248fs

c.742_743fs

1 paper

NM_000127.3

p.R248insFs

c.742_743insTT

2 papers

NM_000127.3

p.R248_G249insA

c.742_746ins3

1 paper

NM_000127.3

p.R248delFs

c.742delT

1 paper

NM_000127.3

p.R248fs

c.742_743fs

2 papers

NM_000127.3

p.R248delFs

c.742_743delCT

1 paper

NM_000127.3

p.T244delFs

c.731delG

2 papers

NM_000127.3

p.L251*

c.752T>A

3 papers

NM_000127.3

p.L251delFs

c.752delA

1 paper

NM_000127.3

p.K252K

c.756G>A

1 paper

NM_000127.3

p.F253F

c.759C>T

3 papers

NM_000127.3

p.S238delFs

c.713delG