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.L501L

c.1503C>T

Surrounding Variants

1 paper

NM_000127.3

p.V502M

c.1504G>A

1 paper

NM_000127.3

p.A504V

c.1511C>T

1 paper

NM_000127.3

p.A505fs

c.1513_1514fs

1 paper

NM_000127.3

p.V497V

c.1491G>C

1 paper

NM_000127.3

p.V497delFs

c.1490delA

1 paper

NM_000127.3

p.V497fs

c.1489_1490fs

1 paper

NM_000127.3

p.P496del1

c.1486_1487delTGG

4 papers

NM_000127.3

p.P496L

c.1487C>T

1 paper

NM_000127.3

p.P496S

c.1486C>T

1 paper

NM_000127.3

p.Q508fs

c.1522_1523fs

2 papers

NM_000127.3

p.Q508*

c.1522C>T

4 papers

NM_000127.3

p.Q495*

c.1483C>T