Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.G248R

MYORG

91 papers

Pfam Domains

Glyco_hydro_31_2ndaa 315–511UCSCGlycosyl hydrolases family 31 TIM-barrel domain
Glyco_hydro_31_2ndaa 520–620UCSCGlycosyl hydrolases family 31 TIM-barrel domain
Glyco_hydro_31_3rdaa 630–712UCSCGlycosyl hydrolase family 31 C-terminal domain

Gene Aliases

HGNC Name

myogenesis regulating glycosidase

HGNC Previous Symbol

KIAA1161

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020702.5
p.G248R
c.742G>C
Surrounding Variants
1 paper
NM_020702.5
p.G248fs
c.742_743fs
1 paper
NM_020702.5
p.G248delFs
c.743delC
1 paper
NM_020702.5
p.W249insFs
c.745dupT
7 papers
NM_020702.5
p.W249C
c.747G>T
7 papers
NM_020702.5
p.W249C
c.747G>C
1 paper
NM_020702.5
p.V243L
c.727G>T
1 paper
NM_020702.5
p.V243L
c.727G>C
1 paper
NM_020702.5
p.I237_K238delins
c.711_714delinsATCCCCAGTA
4 papers
NM_020702.5
p.A236ins0
c.706_708dupGCC
1 paper
NM_020702.5
p.A236D
c.707C>A
2 papers
NM_020702.5
p.A234delFs
c.701_702delCG
10 papers
NM_020702.5
p.R261L
c.782G>T
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