Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.R261L

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
10 papers
NM_020702.5
p.R261L
c.782G>T
Surrounding Variants
6 papers
NM_020702.5
p.T265M
c.794C>T
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.W249insFs
c.745dupT
1 paper
NM_020702.5
p.G248delFs
c.743delC
1 paper
NM_020702.5
p.G248R
c.742G>C
1 paper
NM_020702.5
p.G248fs
c.742_743fs
2 papers
NM_020702.5
p.P277fs
c.829_830fs
1 paper
NM_020702.5
p.P277fs
c.829_830fs
3 papers
NM_020702.5
p.P277delFs
c.830delG
1 paper
NM_020702.5
p.V243L
c.727G>T
1 paper
NM_020702.5
p.V243L
c.727G>C
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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."