Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.D227N

EXT2

396 papers

RefSeq Summary

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternativ...

Pfam Domains

Exostosin_GT47aa 100–380UCSCExostosin GT47 domain
Glyco_transf_64aa 456–701UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin glycosyltransferase 2

HGNC Alias Symbol

SOTV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
22 papers
NM_207122.2
p.D227N
c.679G>A
NM_000401.3
p.D260N
c.778G>A
Surrounding Variants
2 papers
NM_207122.2
p.D227Y
c.679G>T
1 paper
NM_207122.2
p.Y226*
c.678C>A
1 paper
NM_207122.2
p.D227E
c.681T>A
1 paper
NM_207122.2
p.D227E
c.681T>G
1 paper
NM_207122.2
p.V228delFs
c.683delT
1 paper
NM_207122.2
p.S229fs
c.685_686fs
1 paper
NM_207122.2
p.Q224fs
c.670_671fs
14 papers
NM_207122.2
p.R223P
c.668G>C
1 paper
NM_207122.2
p.R223_Q224insFs
c.669_670insG
1 paper
NM_207122.2
p.R223W
c.667C>T
8 papers
NM_000401.3
p.Y255*
c.765C>A
NM_207122.2
p.Y222*
c.666C>A
9 papers
NM_000401.3
p.Y255*
c.765C>G
NM_207122.2
p.Y222*
c.666C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."