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

1 paper

NM_000127.3

p.A350fs

c.1048_1049fs

Surrounding Variants

2 papers

NM_000127.3

p.A350D

c.1049C>A

1 paper

NM_000127.3

p.A350_L351Fs

c.1049_1051delinsAATCTGATTCCFs

1 paper

NM_000127.3

p.E349K

c.1045G>A

2 papers

NM_000127.3

p.Q352*

c.1054C>T

1 paper

NM_000127.3

p.L348_E349insCT

c.1042_1046ins6

1 paper

NM_000127.3

p.Q352R

c.1055A>G

1 paper

NM_000127.3

p.Q352H

c.1056G>T

1 paper

NM_000127.3

p.Q352H

c.1056G>C

1 paper

NM_000127.3

p.Q352Q

c.1056G>A

2 papers

NM_000127.3

p.Q352_A353Splc

c.1056+1G>T

1 paper

NM_000127.3

p.Q352_A353Splc

c.1056+1G>C

8 papers

NM_000127.3

p.Q352_A353Splc

c.1056+1G>A