Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.Y23*

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
6 papers
NM_020702.5
p.Y23*
c.69C>A
Surrounding Variants
6 papers
NM_020702.5
p.Y23*
c.69C>G
1 paper
NM_020702.5
p.A31G
c.92C>G
1 paper
NM_020702.5
p.R14fs
c.40_41fs
2 papers
NM_020702.5
p.R14insFs
c.40dupC
13 papers
NM_020702.5
p.M35V
c.103A>G
1 paper
NM_020702.5
p.A11_Y12delFs
c.33_34delAG
5 papers
NM_020702.5
p.M35K
c.104T>A
1 paper
NM_020702.5
p.L39delFs
c.115delG
1 paper
NM_020702.5
p.P40S
c.118C>T
1 paper
NM_020702.5
p.D41N
c.121G>A
1 paper
NM_020702.5
p.M1R
c.2T>G
1 paper
NM_020702.5
p.M1V
c.1A>G
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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."