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.D159H

c.475G>C

Surrounding Variants

1 paper

NM_000127.3

p.L161*

c.482T>G

1 paper

NM_000127.3

p.L161S

c.482T>C

1 paper

NM_000127.3

p.L161*

c.482T>A

1 paper

NM_000127.3

p.L161delFs

c.482delA

1 paper

NM_000127.3

p.D162N

c.484G>A

1 paper

NM_000127.3

p.L156L

c.466C>T

1 paper

NM_000127.3

p.D162fs

c.484_485fs

2 papers

NM_000127.3

p.D162G

c.485A>G

1 paper

NM_000127.3

p.V155A

c.464T>C

1 paper

NM_000127.3

p.F154insFs

c.461dupT

1 paper

NM_000127.3

p.F154delFs

c.461_462delAA

1 paper

NM_000127.3

p.L153_F154delFs

c.459_462del4