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.G14S

c.40G>A

Surrounding Variants

2 papers

NM_000127.3

p.A13delFs

c.37delC

2 papers

NM_000127.3

p.S15C

c.44C>G

1 paper

NM_000127.3

p.S12L

c.35C>T

1 paper

NM_000127.3

p.S12*

c.35C>G

1 paper

NM_000127.3

p.C16R

c.46T>C

1 paper

NM_000127.3

p.C16fs

c.46_47fs

3 papers

NM_000127.3

p.S15_C16delFs

c.45_46delAA

1 paper

NM_000127.3

p.L17insFs

c.50dupT

1 paper

NM_000127.3

p.L10M

c.28C>A

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.F8insFs

c.22dupT