Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.R67G

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.R67G
c.199A>G
Surrounding Variants
1 paper
NM_001199298.2
p.S65S
c.195G>T
1 paper
NM_001199298.2
p.Q64*
c.190C>T
2 papers
NM_001199298.2
p.K63R
c.188A>G
1 paper
NM_001199298.2
p.A72fs
c.214_215fs
1 paper
NM_001199298.2
p.K61M
c.182A>T
1 paper
NM_001199298.2
p.K75R
c.224A>G
1 paper
NM_001199298.2
p.A72_I76delFs
c.216_226del11
2 papers
NM_001199298.2
p.I76I
c.228C>T
1 paper
NM_001199298.2
p.A77fs
c.229_230fs
1 paper
NM_001199298.2
p.I76_Q78delins
c.228_232delinsTGCAT
1 paper
NM_001199298.2
p.A77_Q78delFs
c.229_232del4
1 paper
NM_001199298.2
p.E49_E50Splc
c.148-34A>G
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