Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2

EXTL2

42 papers

Pfam Domains

Glyco_transf_64aa 66–321UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin like glycosyltransferase 2

HGNC Previous Name

exostoses (multiple)-like 2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
2 papers
NM_001033025.3
p.V32_A35delFs
c.96_105del10
2 papers
NM_001033025.3
p.I96_K105del10
c.286_314del30
2 papers
NM_001033025.3
p.M131R
c.392T>G
2 papers
NM_001033025.3
p.R134*
c.400C>T
2 papers
NM_001033025.3
p.G188V
c.563G>T
1 paper
NM_001033025.3
p.M1K
c.2T>A
1 paper
NM_001033025.3
p.L9I
c.25C>A
1 paper
NM_001033025.3
p.G15W
c.43G>T
1 paper
NM_001033025.3
p.R17*
c.49C>T
1 paper
NM_001033025.3
p.V25delFs
c.75delG
1 paper
NM_001033025.3
p.I26_L27insFs
c.78_79insT
1 paper
NM_001033025.3
p.V28L
c.82G>T
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."