Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.R611W

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
11 papers
NM_020702.5
p.R611W
c.1831C>T
Surrounding Variants
3 papers
NM_020702.5
p.R611L
c.1832G>T
1 paper
NM_020702.5
p.L614P
c.1841T>C
1 paper
NM_020702.5
p.L618M
c.1852C>A
3 papers
NM_020702.5
p.V601_A602del1
c.1802_1804delCCA
6 papers
NM_020702.5
p.L622P
c.1865T>C
1 paper
NM_020702.5
p.G624S
c.1870G>A
1 paper
NM_020702.5
p.E625*
c.1873G>T
1 paper
NM_020702.5
p.P632L
c.1895C>T
1 paper
NM_020702.5
p.R635S
c.1903C>A
1 paper
NM_020702.5
p.P585L
c.1754C>T
1 paper
NM_020702.5
p.P585Q
c.1754C>A
1 paper
NM_020702.5
p.A582V
c.1745C>T
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