Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.L342_H343insG

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.L342_H343insG
c.1024_1028ins3
Surrounding Variants
1 paper
NM_020702.5
p.S348_H349ins6
c.1042_1046ins18
1 paper
NM_020702.5
p.S348_H349ins8
c.1042_1046ins24
8 papers
NM_020702.5
p.S348_H349ins12
c.1042_1046ins36
1 paper
NM_020702.5
p.H349Q
c.1047C>G
1 paper
NM_020702.5
p.H349Q
c.1047C>A
5 papers
NM_020702.5
p.D354del1
c.1060_1062delGTC
1 paper
NM_020702.5
p.A327delFs
c.981delG
2 papers
NM_020702.5
p.Y324*
c.972C>G
3 papers
NM_020702.5
p.Y324*
c.972C>A
1 paper
NM_020702.5
p.A359insFs
c.1075_1076dupGC
4 papers
NM_020702.5
p.Y360delFs
c.1078delA
7 papers
NM_020702.5
p.Y360fs
c.1078_1079fs
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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."