Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.S367delFs

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.S367delFs
c.1100delG
Surrounding Variants
2 papers
NM_001199298.2
p.W369*
c.1107G>A
1 paper
NM_001199298.2
p.T373S
c.1117A>T
1 paper
NM_001199298.2
p.T373A
c.1117A>G
1 paper
NM_001199298.2
p.T373S
c.1118C>G
1 paper
NM_001199298.2
p.R361K
c.1082G>A
1 paper
NM_001199298.2
p.K374R
c.1121A>G
1 paper
NM_001199298.2
p.S379insFs
c.1135_1136insA
2 papers
NM_001199298.2
p.M353T
c.1058T>C
1 paper
NM_001199298.2
p.I349V
c.1045A>G
1 paper
NM_001199298.2
p.E347_C348delins
c.1041_1044delinsT
1 paper
NM_001199298.2
p.S343R
c.1029T>G
1 paper
NM_001199298.2
p.S343R
c.1029T>A
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