Varaico: Literature-Extracted Genetic Variants

Gene:EXTL1
Variant:p.G417A

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.G417A
c.1250G>C
Surrounding Variants
2 papers
NM_004455.3
p.R414H
c.1241G>A
1 paper
NM_004455.3
p.A421_L422insFs
c.1263_1264insAT
1 paper
NM_004455.3
p.V425M
c.1273G>A
1 paper
NM_004455.3
p.I436L
c.1306A>C
1 paper
NM_004455.3
p.A438T
c.1312G>A
1 paper
NM_004455.3
p.S442delFs
c.1325delC
1 paper
NM_004455.3
p.S400R
c.1200C>A
1 paper
NM_004455.3
p.S400R
c.1200C>G
1 paper
NM_004455.3
p.Q402delFs
c.1204delC
1 paper
NM_004455.3
p.S400R
c.1198A>C
1 paper
NM_004455.3
p.T399A
c.1195A>G
1 paper
NM_004455.3
p.T396_S398del3
c.1186_1193del9
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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."