Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2
Variant:p.L82insFs

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.L82insFs
c.244_245insG
Surrounding Variants
1 paper
NM_001033025.3
p.L83insFs
c.247_248insC
1 paper
NM_001033025.3
p.L80F
c.240G>T
1 paper
NM_001033025.3
p.L80F
c.240G>C
1 paper
NM_001033025.3
p.R75del1
c.223_224delTCT
1 paper
NM_001033025.3
p.R75delFs
c.224_225delTC
1 paper
NM_001033025.3
p.V98I
c.292G>A
1 paper
NM_001033025.3
p.S61F
c.182C>T
2 papers
NM_001033025.3
p.I96_K105del10
c.286_314del30
1 paper
NM_001033025.3
p.P116A
c.346C>G
1 paper
NM_001033025.3
p.E45*
c.133G>T
1 paper
NM_001033025.3
p.L40delFs
c.118delG
1 paper
NM_001033025.3
p.L39L
c.117A>G
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