Varaico: Literature-Extracted Genetic Variants

Gene:EXTL1
Variant:p.C132_L133del1

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.C132_L133del1
c.396_398delCCT
Surrounding Variants
1 paper
NM_004455.3
p.C132_L133del2
c.394_398del6
1 paper
NM_004455.3
p.L134P
c.401T>C
1 paper
NM_004455.3
p.P128L
c.383C>T
1 paper
NM_004455.3
p.D140N
c.418G>A
1 paper
NM_004455.3
p.R122H
c.365G>A
1 paper
NM_004455.3
p.T110A
c.328A>G
1 paper
NM_004455.3
p.R163H
c.488G>A
1 paper
NM_004455.3
p.V100M
c.298G>A
1 paper
NM_004455.3
p.V98E
c.293T>A
1 paper
NM_004455.3
p.Q174H
c.522G>C
1 paper
NM_004455.3
p.Q174H
c.522G>T
1 paper
NM_004455.3
p.T88A
c.262A>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."