Varaico: Literature-Extracted Genetic Variants

Gene:MOSMO
Variant:p.R100Q

MOSMO

24 papers

Pfam Domains

Atthogaa 25–166UCSCAttenuator of Hedgehog

Gene Aliases

HGNC Name

modulator of smoothened

HGNC Previous Symbol

C16orf52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164579.2
p.R100Q
c.299G>A
Surrounding Variants
1 paper
NM_001164579.2
p.M107insFs
c.319_320ins20
1 paper
NM_001164579.2
p.M107ins13
c.319_320ins39
1 paper
NM_001164579.2
p.M107Splc
c.319+2T>G
1 paper
NM_001164579.2
p.S89fs
c.265_266fs
1 paper
NM_001164579.2
p.W65*
c.195G>A
1 paper
NM_001164579.2
p.W65*
c.194G>A
2 papers
NM_001164579.2
p.M107Splc
c.320-1G>A
1 paper
NM_001164579.2
p.F121fs
c.361_362fs
1 paper
NM_001164579.2
p.N124H
c.370A>C
1 paper
NM_001164579.2
p.V147F
c.439G>T
1 paper
NM_001164579.2
p.S149S
c.447A>G
1 paper
NM_001164579.2
p.I150F
c.448A>T
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