Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.Y477*

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
7 papers
NM_020702.5
p.Y477*
c.1431C>G
Surrounding Variants
8 papers
NM_020702.5
p.Y477*
c.1431C>A
8 papers
NM_020702.5
p.T476N
c.1427C>A
1 paper
NM_020702.5
p.R472Q
c.1415G>A
2 papers
NM_020702.5
p.S468insFs
c.1402_1403ins8
2 papers
NM_020702.5
p.V467_S468insFs
c.1401_1402ins8
5 papers
NM_020702.5
p.E466fs
c.1396_1397fs
4 papers
NM_020702.5
p.G465insFs
c.1394dupG
4 papers
NM_020702.5
p.P496L
c.1487C>T
5 papers
NM_020702.5
p.R504P
c.1511G>C
1 paper
NM_020702.5
p.A440_G446delFs
c.1320_1336del17
1 paper
NM_020702.5
p.Q445del1
c.1333_1334delCTG
11 papers
NM_020702.5
p.Q445*
c.1333C>T
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."