Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.P304_S305del1

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
2 papers
NM_020702.5
p.P304_S305del1
c.912_914delGAC
Surrounding Variants
2 papers
NM_020702.5
p.S305del1
c.913_914delTGA
5 papers
NM_020702.5
p.R298P
c.893G>C
4 papers
NM_020702.5
p.R314*
c.940C>T
2 papers
NM_020702.5
p.W321R
c.961T>C
2 papers
NM_020702.5
p.W321R
c.961T>A
1 paper
NM_020702.5
p.D288Y
c.862G>T
2 papers
NM_020702.5
p.Y324*
c.972C>G
3 papers
NM_020702.5
p.Y324*
c.972C>A
4 papers
NM_020702.5
p.V285insFs
c.854_855dupTG
3 papers
NM_020702.5
p.G286S
c.856G>A
4 papers
NM_020702.5
p.G286fs
c.856_857fs
5 papers
NM_020702.5
p.C284R
c.850T>C
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