Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2
Variant:p.M210V

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.M210V
c.628A>G
Surrounding Variants
1 paper
NM_001033025.3
p.V211insFs
c.631_632insC
1 paper
NM_001033025.3
p.I213T
c.638T>C
1 paper
NM_001033025.3
p.S202fs
c.604_605fs
1 paper
NM_001033025.3
p.S202insFs
c.604_605insT
1 paper
NM_001033025.3
p.F218delFs
c.652delA
1 paper
NM_001033025.3
p.F217_Y222Fs
c.651_664delinsTTTFs
1 paper
NM_001033025.3
p.E224_L225del2
c.670_674del6
2 papers
NM_001033025.3
p.G188V
c.563G>T
1 paper
NM_001033025.3
p.A235V
c.704C>T
1 paper
NM_001033025.3
p.D238Y
c.712G>T
1 paper
NM_001033025.3
p.D239Y
c.715G>T
1 paper
NM_001033025.3
p.M248insFs
c.742_743insTT
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