Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.L95_N104Fs

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.L95_N104Fs
c.285_310delinsTTCFs
Surrounding Variants
1 paper
NM_020702.5
p.I102T
c.305T>C
3 papers
NM_020702.5
p.Q109*
c.325C>T
1 paper
NM_020702.5
p.K96delFs
c.287delT
1 paper
NM_020702.5
p.L95fs
c.283_284fs
1 paper
NM_020702.5
p.L95P
c.284T>C
6 papers
NM_020702.5
p.L113R
c.338T>G
1 paper
NM_020702.5
p.A114_F115insFs
c.342_343insG
1 paper
NM_020702.5
p.R116_S117insLAF
c.346_350ins9
9 papers
NM_020702.5
p.R116_S117ins4
c.346_350ins12
1 paper
NM_020702.5
p.R116insFs
c.348dupC
7 papers
NM_020702.5
p.L113_R116ins1
c.337_348dup12
1 paper
NM_020702.5
p.S117ins2
c.349_350ins6
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