Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.P678R

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
3 papers
NM_020702.5
p.P678R
c.2033C>G
Surrounding Variants
4 papers
NM_020702.5
p.G680S
c.2038G>A
1 paper
NM_020702.5
p.T693M
c.2078C>T
1 paper
NM_020702.5
p.T693R
c.2078C>G
4 papers
NM_020702.5
p.L696fs
c.2086_2087fs
7 papers
NM_020702.5
p.L660Q
c.1979T>A
3 papers
NM_020702.5
p.G657R
c.1969G>C
3 papers
NM_020702.5
p.G657R
c.1969G>A
10 papers
NM_020702.5
p.I656T
c.1967T>C
2 papers
NM_020702.5
p.P701_V702del2
c.2101_2105del6
1 paper
NM_020702.5
p.W712L
c.2135G>T
2 papers
NM_020702.5
p.W712*
c.2135G>A
1 paper
NM_020702.5
p.W712*
c.2136G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."