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

2 papers

NM_000127.3

p.N133delFs

c.398delT

Surrounding Variants

1 paper

NM_000127.3

p.I134delFs

c.402delA

1 paper

NM_000127.3

p.Q132*

c.394C>T

1 paper

NM_000127.3

p.Y131*

c.393C>G

1 paper

NM_000127.3

p.Y131*

c.393C>A

1 paper

NM_000127.3

p.S130_A136delFs

c.390_406del17

1 paper

NM_000127.3

p.Y131fs

c.391_392fs

1 paper

NM_000127.3

p.S130_Y131insGA

c.388_392ins6

1 paper

NM_000127.3

p.E129*

c.385G>T

2 papers

NM_000127.3

p.I138M

c.414C>G

2 papers

NM_000127.3

p.E139*

c.415G>T

1 paper

NM_000127.3

p.E139K

c.415G>A

1 paper

NM_000127.3

p.E139fs

c.415_416fs