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.Y7fs

c.19_20fs

Surrounding Variants

1 paper

NM_000127.3

p.Y7insFs

c.19dupT

2 papers

NM_000127.3

p.K5insFs

c.15dupA

1 paper

NM_000127.3

p.R6fs

c.16_17fs

1 paper

NM_000127.3

p.K5N

c.15A>T

1 paper

NM_000127.3

p.F8insFs

c.22dupT

1 paper

NM_000127.3

p.K5R

c.14A>G

1 paper

NM_000127.3

p.I9fs

c.25_26fs

1 paper

NM_000127.3

p.K5_I9Fs

c.13_27delinsATTCFs

1 paper

NM_000127.3

p.L10M

c.28C>A

1 paper

NM_000127.3

p.A3_K4insFs

c.9_10insA

1 paper

NM_000127.3

p.A3V

c.8C>T

1 paper

NM_000127.3

p.Q2*

c.4C>T