Varaico: Literature-Extracted Genetic Variants

Gene:MIS18BP1
Variant:p.S52_L53del1

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
2 papers
NM_018353.5
p.S52_L53del1
c.155_157delAGG
Surrounding Variants
1 paper
NM_018353.5
p.S52_L53del2
c.154_158del6
1 paper
NM_018353.5
p.S51A
c.151T>G
1 paper
NM_018353.5
p.K43N
c.129A>T
1 paper
NM_018353.5
p.K43*
c.127A>T
1 paper
NM_018353.5
p.F63delFs
c.189delG
2 papers
NM_018353.5
p.V42I
c.124G>A
1 paper
NM_018353.5
p.G37V
c.110G>T
1 paper
NM_018353.5
p.G37C
c.109G>T
1 paper
NM_018353.5
p.G37S
c.109G>A
1 paper
NM_018353.5
p.N70S
c.209A>G
1 paper
NM_018353.5
p.N71I
c.212A>T
1 paper
NM_018353.5
p.S33_P35Fs
c.98_104delinsTCCFs
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