Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.G545D

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.G545D
c.1634G>A
Surrounding Variants
1 paper
NM_020702.5
p.L544Q
c.1631T>A
2 papers
NM_020702.5
p.I535_P536insC
c.1603_1607ins3
3 papers
NM_020702.5
p.S533L
c.1598C>T
1 paper
NM_020702.5
p.T563fs
c.1687_1688fs
1 paper
NM_020702.5
p.T563delFs
c.1687delT
1 paper
NM_020702.5
p.P569T
c.1705C>A
1 paper
NM_020702.5
p.D520N
c.1558G>A
2 papers
NM_020702.5
p.R576P
c.1727G>C
2 papers
NM_020702.5
p.R576H
c.1727G>A
7 papers
NM_020702.5
p.S513_C514del1
c.1538_1540delAGG
1 paper
NM_020702.5
p.N511T
c.1532A>C
5 papers
NM_020702.5
p.N511fs
c.1531_1532fs
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