Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.L625F

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.L625F
c.1873C>T
Surrounding Variants
4 papers
NM_001199298.2
p.R624*
c.1870C>T
2 papers
NM_001199298.2
p.Q631E
c.1891C>G
1 paper
NM_001199298.2
p.D638Splc
c.1912+83G>A
1 paper
NM_001199298.2
p.D638Splc
c.1913-159A>G
1 paper
NM_001199298.2
p.D638Splc
c.1913-85A>G
2 papers
NM_001199298.2
p.G596E
c.1787G>A
1 paper
NM_001199298.2
p.H578fs
c.1732_1733fs
1 paper
NM_001199298.2
p.Y575C
c.1724A>G
1 paper
NM_001199298.2
p.Y575D
c.1723T>G
1 paper
NM_001199298.2
p.C566R
c.1696T>C
7 papers
NM_001199298.2
p.Y564H
c.1690T>C
1 paper
NM_001199298.2
p.C563Y
c.1688G>A
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