Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.D434G

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
1 paper
NM_020702.5
p.D434G
c.1301A>G
Surrounding Variants
6 papers
NM_020702.5
p.D434H
c.1300G>C
1 paper
NM_020702.5
p.G428_I429delFs
c.1284_1287del4
1 paper
NM_020702.5
p.A440T
c.1318G>A
9 papers
NM_020702.5
p.R441G
c.1321C>G
1 paper
NM_020702.5
p.R441fs
c.1321_1322fs
1 paper
NM_020702.5
p.R441delFs
c.1321delG
1 paper
NM_020702.5
p.R424_W426insFs
c.1270_1277dup8
4 papers
NM_020702.5
p.W426fs
c.1276_1277fs
3 papers
NM_020702.5
p.G428_D442del15
c.1282_1325del45
9 papers
NM_020702.5
p.W443*
c.1328G>A
7 papers
NM_020702.5
p.W443*
c.1329G>A
2 papers
NM_020702.5
p.R424insFs
c.1271_1272ins8
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