Varaico: Literature-Extracted Genetic Variants

Gene:OIP5
Variant:p.R209C

OIP5

29 papers

RefSeq Summary

The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregu...

Pfam Domains

Yippee-Mis18aa 76–184UCSCYippee zinc-binding/DNA-binding /Mis18, centromere assembly

Gene Aliases

HGNC Name

Opa interacting protein 5

HGNC Alias Symbols

MIS18B; hMIS18beta; CT86

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007280.2
p.R209C
c.625C>T
Surrounding Variants
2 papers
NM_007280.2
p.L199L
c.597G>T
1 paper
NM_007280.2
p.V220L
c.658G>T
1 paper
NM_007280.2
p.V220L
c.658G>C
1 paper
NM_007280.2
p.V220A
c.659T>C
1 paper
NM_007280.2
p.E198_L199Splc
c.595-8C>T
1 paper
NM_007280.2
p.I196V
c.586A>G
1 paper
NM_007280.2
p.I179T
c.536T>C
1 paper
NM_007280.2
p.I179K
c.536T>A
1 paper
NM_007280.2
p.K168fs
c.502_503fs
2 papers
NM_007280.2
p.S165F
c.494C>T
1 paper
NM_007280.2
p.S139C
c.416C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."