Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2
Variant:p.A290_L291insFs

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.A290_L291insFs
c.870_871ins4
Surrounding Variants
1 paper
NM_001033025.3
p.L291fs
c.871_872fs
1 paper
NM_001033025.3
p.R293insFs
c.877_878insT
1 paper
NM_001033025.3
p.L291_I297delFs
c.871_890del20
1 paper
NM_001033025.3
p.K299fs
c.895_896fs
1 paper
NM_001033025.3
p.N298_K299delFs
c.894_897del4
1 paper
NM_001033025.3
p.N302I
c.905A>T
1 paper
NM_001033025.3
p.N277T
c.830A>C
1 paper
NM_001033025.3
p.L309S
c.926T>C
1 paper
NM_001033025.3
p.R310K
c.929G>A
1 paper
NM_001033025.3
p.K265E
c.793A>G
1 paper
NM_001033025.3
p.K327R
c.980A>G
1 paper
NM_001033025.3
p.M248insFs
c.742_743insTT
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