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.K475delFs

c.1425delC

Surrounding Variants

1 paper

NM_000127.3

p.P476T

c.1426C>A

1 paper

NM_000127.3

p.K475fs

c.1423_1424fs

1 paper

NM_000127.3

p.P477fs

c.1429_1430fs

1 paper

NM_000127.3

p.K475*

c.1423A>T

1 paper

NM_000127.3

p.P477L

c.1430C>T

1 paper

NM_000127.3

p.P477R

c.1430C>G

1 paper

NM_000127.3

p.P477insFs

c.1430_1431insT

1 paper

NM_000127.3

p.L474insFs

c.1421dupT

1 paper

NM_000127.3

p.L474*

c.1421T>G

1 paper

NM_000127.3

p.L474*

c.1421T>A

13 papers

NM_000127.3

p.P477P

c.1431C>T

3 papers

NM_000127.3

p.P477_S478insFs

c.1431_1432insT