Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.C511R

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
5 papers
NM_001199298.2
p.C511R
c.1531T>C
Surrounding Variants
1 paper
NM_001199298.2
p.N525S
c.1574A>G
1 paper
NM_001199298.2
p.E529E
c.1587G>A
1 paper
NM_001199298.2
p.E481_V482Splc
c.1444-30G>A
1 paper
NM_001199298.2
p.E481_V482Splc
c.1443+76T>C
1 paper
NM_001199298.2
p.Q449*
c.1345C>T
1 paper
NM_001199298.2
p.T448_Q449delins
c.1344_1345delinsAT
2 papers
NM_001199298.2
p.T448T
c.1344C>A
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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."