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.W304*

c.911G>A

Surrounding Variants

1 paper

NM_000127.3

p.W304*

c.912G>A

1 paper

NM_000127.3

p.V293_W304delFs

c.878_911del34

1 paper

NM_000127.3

p.Q305*

c.913C>T

1 paper

NM_000127.3

p.D303insFs

c.907_908insGC

1 paper

NM_000127.3

p.Q305delFs

c.913delG

1 paper

NM_000127.3

p.K302insFs

c.906dupA

2 papers

NM_000127.3

p.K302delFs

c.906delT

2 papers

NM_000127.3

p.D303fs

c.907_908fs

2 papers

NM_000127.3

p.K306fs

c.916_917fs

1 paper

NM_000127.3

p.K306*

c.916A>T

1 paper

NM_000127.3

p.D303_Q305del0

c.907_915del9

1 paper

NM_000127.3

p.K306delFs

c.917delT