Varaico: Literature-Extracted Genetic Variants

EXT1

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

2 papers

NM_000127.3

p.S277*

c.830C>A

Surrounding Variants

2 papers

NM_000127.3

p.S277*

c.830C>G

1 paper

NM_000127.3

p.D278Y

c.832G>T

1 paper

NM_000127.3

p.G276G

c.828A>G

1 paper

NM_000127.3

p.G274delFs

c.820_821delCC

1 paper

NM_000127.3

p.G274fs

c.820_821fs

1 paper

NM_000127.3

p.R280fs

c.838_839fs

7 papers

NM_000127.3

p.R280G

c.838A>G

1 paper

NM_000127.3

p.T279insFs

c.837dupC

5 papers

NM_000127.3

p.R280S

c.840G>T

5 papers

NM_000127.3

p.R280S

c.840G>C

1 paper

NM_000127.3

p.G274R

c.820G>C

1 paper

NM_000127.3

p.G274R

c.820G>A