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.Y93*

c.279C>A

Surrounding Variants

1 paper

NM_000127.3

p.Y93*

c.279C>G

1 paper

NM_000127.3

p.I92delFs

c.275delA

1 paper

NM_000127.3

p.I92N

c.275T>A

1 paper

NM_000127.3

p.K94delFs

c.282delT

1 paper

NM_000127.3

p.K94_G95delFs

c.282_285del4

1 paper

NM_000127.3

p.S90S

c.270C>G

2 papers

NM_000127.3

p.K97fs

c.289_290fs

2 papers

NM_000127.3

p.S90C

c.269C>G

1 paper

NM_000127.3

p.K97*

c.289A>T

1 paper

NM_000127.3

p.K97E

c.289A>G

1 paper

NM_000127.3

p.K96delFs

c.288delC

1 paper

NM_000127.3

p.S90P

c.268T>C