Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.R424insFs

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
2 papers
NM_020702.5
p.R424insFs
c.1271_1272ins8
Surrounding Variants
1 paper
NM_020702.5
p.V423G
c.1268T>G
4 papers
NM_020702.5
p.W426fs
c.1276_1277fs
1 paper
NM_020702.5
p.R424_W426insFs
c.1270_1277dup8
4 papers
NM_020702.5
p.P420R
c.1259C>G
1 paper
NM_020702.5
p.G428_I429delFs
c.1284_1287del4
6 papers
NM_020702.5
p.D434H
c.1300G>C
1 paper
NM_020702.5
p.D434G
c.1301A>G
4 papers
NM_020702.5
p.F411delFs
c.1233delG
2 papers
NM_020702.5
p.F411L
c.1233C>G
2 papers
NM_020702.5
p.F411L
c.1233C>A
2 papers
NM_020702.5
p.F411L
c.1231T>C
5 papers
NM_020702.5
p.F411fs
c.1231_1232fs
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