Varaico: Literature-Extracted Genetic Variants

Gene:EXTL1
Variant:p.G250A

EXTL1

84 papers

RefSeq Summary

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- ...

Pfam Domains

Exostosin_GT47aa 92–335UCSCExostosin GT47 domain
Glyco_transf_64aa 419–659UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin like glycosyltransferase 1

HGNC Alias Symbol

MGC70794

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004455.3
p.G250A
c.749G>C
Surrounding Variants
1 paper
NM_004455.3
p.R251C
c.751C>T
1 paper
NM_004455.3
p.W248L
c.743G>T
1 paper
NM_004455.3
p.W248insFs
c.742_743insTT
1 paper
NM_004455.3
p.G257*
c.769G>T
1 paper
NM_004455.3
p.T238delFs
c.713delC
1 paper
NM_004455.3
p.G223A
c.668G>C
1 paper
NM_004455.3
p.Q221H
c.663G>C
1 paper
NM_004455.3
p.Q221H
c.663G>T
1 paper
NM_004455.3
p.Q221P
c.662A>C
1 paper
NM_004455.3
p.Q217_P222Fs
c.651_664delinsTTTFs
1 paper
NM_004455.3
p.R216W
c.646C>T
1 paper
NM_004455.3
p.A211insFs
c.631_632insC
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