Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.R116_S117ins2

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.R116_S117ins2
c.348_349ins6
Surrounding Variants
1 paper
NM_020702.5
p.R116_S117insFs
c.348_349ins8
8 papers
NM_020702.5
p.R116_S117ins4
c.348_349ins12
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
3 papers
NM_020702.5
p.S117P
c.349T>C
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.A114_F115insFs
c.342_343insG
6 papers
NM_020702.5
p.L113R
c.338T>G
3 papers
NM_020702.5
p.Q109*
c.325C>T
2 papers
NM_020702.5
p.L95_N104Fs
c.285_310delinsTTCFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."