Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.E116D

UIMC1

170 papers

RefSeq Summary

This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. Th...

Pfam Domains

RAP80_UIMaa 72–128UCSCRAP80 N-terminal ubiquitin interaction motif

Gene Aliases

HGNC Name

ubiquitin interaction motif containing 1

HGNC Alias Symbol

RAP80

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199298.2
p.E116D
c.348A>T
Surrounding Variants
1 paper
NM_001199298.2
p.A113G
c.338C>G
2 papers
NM_001199298.2
p.A113S
c.337G>T
1 paper
NM_001199298.2
p.M91I
c.273G>T
1 paper
NM_001199298.2
p.M91I
c.273G>C
1 paper
NM_001199298.2
p.M91I
c.273G>A
1 paper
NM_001199298.2
p.A88G
c.263C>G
2 papers
NM_001199298.2
p.A88S
c.262G>T
1 paper
NM_001199298.2
p.E81del1
c.241_242delTTC
1 paper
NM_001199298.2
p.Q78*
c.232C>T
3 papers
NM_001199298.2
p.Q78Splc
c.233-2A>G
1 paper
NM_001199298.2
p.R122W
c.364C>T
2 papers
NM_001199298.2
p.S127S
c.381C>T
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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."