Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2
Variant:p.I26_L27insFs

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
Selected Variant
1 paper
NM_001033025.3
p.I26_L27insFs
c.78_79insT
Surrounding Variants
1 paper
NM_001033025.3
p.V25delFs
c.75delG
1 paper
NM_001033025.3
p.V28L
c.82G>T
1 paper
NM_001033025.3
p.V28L
c.82G>C
1 paper
NM_001033025.3
p.V28A
c.83T>C
1 paper
NM_001033025.3
p.L30S
c.89T>C
2 papers
NM_001033025.3
p.V32_A35delFs
c.96_105del10
1 paper
NM_001033025.3
p.R17*
c.49C>T
1 paper
NM_001033025.3
p.G15W
c.43G>T
1 paper
NM_001033025.3
p.L39L
c.117A>G
1 paper
NM_001033025.3
p.L40delFs
c.118delG
1 paper
NM_001033025.3
p.L9I
c.25C>A
1 paper
NM_001033025.3
p.E45*
c.133G>T
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