Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.W229*

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.W229*
c.686G>A
Surrounding Variants
9 papers
NM_020702.5
p.W229C
c.687G>T
9 papers
NM_020702.5
p.W229C
c.687G>C
1 paper
NM_020702.5
p.W229*
c.687G>A
1 paper
NM_020702.5
p.S231Y
c.692C>A
1 paper
NM_020702.5
p.R227C
c.679C>T
5 papers
NM_020702.5
p.R227G
c.679C>G
10 papers
NM_020702.5
p.S232L
c.695C>T
1 paper
NM_020702.5
p.L225P
c.674T>C
2 papers
NM_020702.5
p.A234delFs
c.701_702delCG
1 paper
NM_020702.5
p.A236D
c.707C>A
4 papers
NM_020702.5
p.A236ins0
c.706_708dupGCC
1 paper
NM_020702.5
p.I237_K238delins
c.711_714delinsATCCCCAGTA
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