Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.T129T

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.T129T
c.387C>G
Surrounding Variants
2 papers
NM_001199298.2
p.S127S
c.381C>T
1 paper
NM_001199298.2
p.P133H
c.398C>A
1 paper
NM_001199298.2
p.R122W
c.364C>T
1 paper
NM_001199298.2
p.P138P
c.414G>A
1 paper
NM_001199298.2
p.S142A
c.424T>G
1 paper
NM_001199298.2
p.L152F
c.454C>T
1 paper
NM_001199298.2
p.L152fs
c.454_455fs
1 paper
NM_001199298.2
p.G155Splc
c.463+79C>T
1 paper
NM_001199298.2
p.G155Splc
c.464-64A>G
1 paper
NM_001199298.2
p.L164L
c.490C>T
1 paper
NM_001199298.2
p.F165C
c.494T>G
1 paper
NM_001199298.2
p.I170V
c.508A>G
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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."