Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.F385Y

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
4 papers
NM_020702.5
p.F385Y
c.1154T>A
Surrounding Variants
1 paper
NM_020702.5
p.G384D
c.1151G>A
1 paper
NM_020702.5
p.Y397N
c.1189T>A
8 papers
NM_020702.5
p.A373D
c.1118C>A
1 paper
NM_020702.5
p.E367V
c.1100A>T
7 papers
NM_020702.5
p.F365_D366del2
c.1093_1097del6
8 papers
NM_020702.5
p.D364_D366del0
c.1092_1097del6
7 papers
NM_020702.5
p.Y360fs
c.1078_1079fs
4 papers
NM_020702.5
p.Y360delFs
c.1078delA
1 paper
NM_020702.5
p.A359insFs
c.1075_1076dupGC
2 papers
NM_020702.5
p.F411L
c.1231T>C
5 papers
NM_020702.5
p.F411fs
c.1231_1232fs
2 papers
NM_020702.5
p.F411L
c.1233C>G
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