Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.K318insFs

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.K318insFs
c.954dupA
Surrounding Variants
1 paper
NM_001199298.2
p.G321R
c.961G>C
1 paper
NM_001199298.2
p.G321R
c.961G>A
1 paper
NM_001199298.2
p.A342T
c.1024G>A
1 paper
NM_001199298.2
p.S343R
c.1027A>C
1 paper
NM_001199298.2
p.S343R
c.1029T>G
1 paper
NM_001199298.2
p.S343R
c.1029T>A
1 paper
NM_001199298.2
p.E347_C348delins
c.1041_1044delinsT
1 paper
NM_001199298.2
p.I349V
c.1045A>G
2 papers
NM_001199298.2
p.M353T
c.1058T>C
1 paper
NM_001199298.2
p.R361K
c.1082G>A
1 paper
NM_001199298.2
p.V274_Y276delFs
c.820_826del7
1 paper
NM_001199298.2
p.V274fs
c.820_821fs
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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."