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.I9_F23delFs

c.25_67del43

Surrounding Variants

2 papers

NM_000127.3

p.Y22Y

c.66T>C

1 paper

NM_000127.3

p.G24*

c.70G>T

1 paper

NM_000127.3

p.Y22delFs

c.64delA

1 paper

NM_000127.3

p.L20_Y22delFs

c.60_64del5

2 papers

NM_000127.3

p.Y22fs

c.64_65fs

1 paper

NM_000127.3

p.G24_G25insFs

c.72_73insT

1 paper

NM_000127.3

p.Y22_G24delFs

c.64_71del8

1 paper

NM_000127.3

p.F21L

c.63T>G

1 paper

NM_000127.3

p.F21L

c.63T>A

1 paper

NM_000127.3

p.G25R

c.73G>C

1 paper

NM_000127.3

p.G25D

c.74G>A

1 paper

NM_000127.3

p.F21L

c.61T>C