Varaico: Literature-Extracted Genetic Variants

Gene:EXTL1
Variant:p.R560_Y561insFs

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
1 paper
NM_004455.3
p.R560_Y561insFs
c.1680_1681insC
Surrounding Variants
1 paper
NM_004455.3
p.T564I
c.1691C>T
1 paper
NM_004455.3
p.L570L
c.1710G>A
1 paper
NM_004455.3
p.P621T
c.1861C>A
1 paper
NM_004455.3
p.P621Q
c.1862C>A
1 paper
NM_004455.3
p.R651G
c.1951C>G
1 paper
NM_004455.3
p.P662R
c.1985C>G
1 paper
NM_004455.3
p.V663A
c.1988T>C
1 paper
NM_004455.3
p.Y670D
c.2008T>G
1 paper
NM_004455.3
p.R560Splc
c.1679+13A>G
1 paper
NM_004455.3
p.Y540*
c.1620C>A
1 paper
NM_004455.3
p.Y540*
c.1620C>G
1 paper
NM_004455.3
p.E533K
c.1597G>A
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