Varaico: Literature-Extracted Genetic Variants

Gene:MIS18BP1
Variant:p.R124C

MIS18BP1

107 papers

Pfam Domains

SANTAaa 383–470UCSCSANTA (SANT Associated)

Gene Aliases

HGNC Name

MIS18 binding protein 1

HGNC Previous Symbol

C14orf106

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018353.5
p.R124C
c.370C>T
Surrounding Variants
1 paper
NM_018353.5
p.K121Q
c.361A>C
1 paper
NM_018353.5
p.E120D
c.360A>T
1 paper
NM_018353.5
p.E128K
c.382G>A
1 paper
NM_018353.5
p.L136V
c.406T>G
1 paper
NM_018353.5
p.G112fs
c.334_335fs
2 papers
NM_018353.5
p.S110A
c.328T>G
1 paper
NM_018353.5
p.G143R
c.427G>C
1 paper
NM_018353.5
p.G143R
c.427G>A
1 paper
NM_018353.5
p.S93N
c.278G>A
1 paper
NM_018353.5
p.K155R
c.464A>G
2 papers
NM_018353.5
p.K157fs
c.469_470fs
2 papers
NM_018353.5
p.K157insFs
c.471dupA
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