Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.Q666P

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
6 papers
NM_001199298.2
p.Q666P
c.1997A>C
Surrounding Variants
2 papers
NM_001199298.2
p.Q666*
c.1996C>T
1 paper
NM_001199298.2
p.S668S
c.2004T>C
1 paper
NM_001199298.2
p.R671P
c.2012G>C
2 papers
NM_001199298.2
p.R672H
c.2015G>A
1 paper
NM_001199298.2
p.S677A
c.2029T>G
1 paper
NM_001199298.2
p.S653A
c.1957T>G
1 paper
NM_001199298.2
p.Q698K
c.2092C>A
1 paper
NM_001199298.2
p.Q702H
c.2106G>T
1 paper
NM_001199298.2
p.Q702H
c.2106G>C
1 paper
NM_001199298.2
p.R717del1
c.2149_2150delTCT
1 paper
NM_001199298.2
p.D638Splc
c.1913-85A>G
1 paper
NM_001199298.2
p.D638Splc
c.1913-159A>G
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