Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.D38G

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.D38G
c.113A>G
Surrounding Variants
1 paper
NM_001199298.2
p.V42A
c.125T>C
2 papers
NM_001199298.2
p.R34H
c.101G>A
1 paper
NM_001199298.2
p.R32insFs
c.95_96insC
1 paper
NM_001199298.2
p.S44F
c.131C>T
1 paper
NM_001199298.2
p.K31R
c.92A>G
1 paper
NM_001199298.2
p.S46insFs
c.136_137insTT
1 paper
NM_001199298.2
p.S29T
c.86G>C
1 paper
NM_001199298.2
p.G48E
c.143G>A
1 paper
NM_001199298.2
p.T24fs
c.70_71fs
2 papers
NM_001199298.2
p.T24delFs
c.70delT
1 paper
NM_001199298.2
p.E23*
c.67G>T
1 paper
NM_001199298.2
p.D21N
c.61G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."