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.K261E

c.781A>G

Surrounding Variants

1 paper

NM_000127.3

p.L259P

c.776T>C

3 papers

NM_000127.3

p.Y262*

c.786C>G

3 papers

NM_000127.3

p.Y262*

c.786C>A

2 papers

NM_000127.3

p.P258S

c.772C>T

1 paper

NM_000127.3

p.K261_M263delFs

c.783_789del7

1 paper

NM_000127.3

p.L264R

c.791T>G

2 papers

NM_000127.3

p.L264P

c.791T>C

1 paper

NM_000127.3

p.P257delFs

c.769delG

1 paper

NM_000127.3

p.P258_L264delFs

c.772_790del19

1 paper

NM_000127.3

p.V265fs

c.793_794fs

2 papers

NM_000127.3

p.V265delFs

c.793delC

1 paper

NM_000127.3

p.F266fs

c.796_797fs