Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.K19R

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.K19R
c.56A>G
Surrounding Variants
1 paper
NM_001199298.2
p.K20R
c.59A>G
1 paper
NM_001199298.2
p.E18delFs
c.52delC
1 paper
NM_001199298.2
p.D21N
c.61G>A
1 paper
NM_001199298.2
p.K20del1
c.58_60delCTT
1 paper
NM_001199298.2
p.N16_L17insFs
c.48_49insC
1 paper
NM_001199298.2
p.E23*
c.67G>T
9 papers
NM_001199298.2
p.R15W
c.43C>T
1 paper
NM_001199298.2
p.S14Y
c.41C>A
2 papers
NM_001199298.2
p.T24delFs
c.70delT
1 paper
NM_001199298.2
p.T24fs
c.70_71fs
1 paper
NM_001199298.2
p.S12P
c.34T>C
1 paper
NM_001199298.2
p.K9N
c.27A>C
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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."