Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.K6R

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.K6R
c.17A>G
Surrounding Variants
2 papers
NM_001199298.2
p.K7insFs
c.21dupA
1 paper
NM_001199298.2
p.K7delFs
c.21delT
1 paper
NM_001199298.2
p.V8delFs
c.24delA
1 paper
NM_001199298.2
p.K9R
c.26A>G
1 paper
NM_001199298.2
p.R3W
c.7C>T
1 paper
NM_001199298.2
p.K9N
c.27A>C
1 paper
NM_001199298.2
p.S12P
c.34T>C
1 paper
NM_001199298.2
p.S14Y
c.41C>A
9 papers
NM_001199298.2
p.R15W
c.43C>T
1 paper
NM_001199298.2
p.N16_L17insFs
c.48_49insC
1 paper
NM_001199298.2
p.E18delFs
c.52delC
1 paper
NM_001199298.2
p.K19R
c.56A>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."