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.Q122H

c.366A>C

Surrounding Variants

1 paper

NM_000127.3

p.Q122H

c.366A>T

1 paper

NM_000127.3

p.Q122Q

c.366A>G

1 paper

NM_000127.3

p.K123fs

c.367_368fs

4 papers

NM_000127.3

p.Q122*

c.364C>T

1 paper

NM_000127.3

p.Q121fs

c.361_362fs

1 paper

NM_000127.3

p.Q121delFs

c.362delT

3 papers

NM_000127.3

p.K123fs

c.367_368fs

3 papers

NM_000127.3

p.K123Fs

c.368_369delinsCFs

2 papers

NM_000127.3

p.G124fs

c.370_371fs

1 paper

NM_000127.3

p.K123_G124Fs

c.369_370delinsTFs

3 papers

NM_000127.3

p.Q122delFs

c.365delT

2 papers

NM_000127.3

p.K123_G124delFs

c.369_370delCT