Varaico: Literature-Extracted Genetic Variants

Gene:EXTL3

EXTL3

120 papers

RefSeq Summary

This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction ...

Pfam Domains

Exostosin_GT47aa 186–500UCSCExostosin GT47 domain
Glyco_transf_64aa 663–904UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin like glycosyltransferase 3

HGNC Alias Symbols

botv; REGR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
11 papers
NM_001440.4
p.P461L
c.1382C>T
11 papers
NM_001440.4
p.N657S
c.1970A>G
8 papers
NM_001440.4
p.R513C
c.1537C>T
6 papers
NM_001440.4
p.P318L
c.953C>T
6 papers
NM_001440.4
p.R339W
c.1015C>T
6 papers
NM_001440.4
p.Y670D
c.2008T>G
5 papers
NM_001440.4
p.V490delFs
c.1469delT
3 papers
NM_001440.4
p.R440C
c.1318C>T
3 papers
NM_001440.4
p.R907C
c.2719C>T
2 papers
NM_001440.4
p.D164H
c.490G>C
2 papers
NM_001440.4
p.R280G
c.838C>G
2 papers
NM_001440.4
p.V442L
c.1324G>C
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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."