Varaico: Literature-Extracted Genetic Variants

Gene:EXTL1
Variant:p.Q2*

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.Q2*
c.4C>T
Surrounding Variants
1 paper
NM_004455.3
p.S3L
c.8C>T
1 paper
NM_004455.3
p.L23L
c.67C>T
1 paper
NM_004455.3
p.G26_F27insFs
c.78_79insT
1 paper
NM_004455.3
p.S28C
c.83C>G
1 paper
NM_004455.3
p.R31P
c.92G>C
1 paper
NM_004455.3
p.P38R
c.113C>G
1 paper
NM_004455.3
p.P40delFs
c.118delC
1 paper
NM_004455.3
p.Q44_G45delFs
c.132_133delAG
1 paper
NM_004455.3
p.S59delFs
c.176delC
1 paper
NM_004455.3
p.H76delFs
c.227delA
1 paper
NM_004455.3
p.W82insFs
c.244_245insG
1 paper
NM_004455.3
p.E83insFs
c.247_248insC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."