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.A331D

c.992C>A

Surrounding Variants

1 paper

NM_000127.3

p.A331T

c.991G>A

1 paper

NM_000127.3

p.T332S

c.994A>T

1 paper

NM_000127.3

p.T332S

c.995C>G

1 paper

NM_000127.3

p.N330S

c.989A>G

1 paper

NM_000127.3

p.F333L

c.997T>C

1 paper

NM_000127.3

p.F333fs

c.997_998fs

1 paper

NM_000127.3

p.T332delFs

c.996delA

1 paper

NM_000127.3

p.L328delFs

c.983delA

1 paper

NM_000127.3

p.L335_V336insA

c.1003_1007ins3

1 paper

NM_000127.3

p.L335M

c.1003C>A

1 paper

NM_000127.3

p.L335Fs

c.1003delinsGAFs

2 papers

NM_000127.3

p.L335R

c.1004T>G