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.Y324*

c.972T>G

Surrounding Variants

1 paper

NM_000127.3

p.Y324*

c.972T>A

1 paper

NM_000127.3

p.D323_Y324del0

c.967_972del6

1 paper

NM_000127.3

p.Y324C

c.971A>G

2 papers

NM_000127.3

p.R325Q

c.974G>A

1 paper

NM_000127.3

p.D323_R325delFs

c.968_974del7

1 paper

NM_000127.3

p.E326*

c.976G>T

1 paper

NM_000127.3

p.D323insFs

c.968_969insTC

1 paper

NM_000127.3

p.D323fs

c.967_968fs

4 papers

NM_000127.3

p.Y322*

c.966T>G

3 papers

NM_000127.3

p.Y322*

c.966T>A

1 paper

NM_000127.3

p.K321N

c.963G>T

1 paper

NM_000127.3

p.K321N

c.963G>C