Varaico: Literature-Extracted Genetic Variants

Gene:UIMC1
Variant:p.T448_Q449delins

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.T448_Q449delins
c.1344_1345delinsAT
Surrounding Variants
1 paper
NM_001199298.2
p.Q449*
c.1345C>T
2 papers
NM_001199298.2
p.T448T
c.1344C>A
1 paper
NM_001199298.2
p.E481_V482Splc
c.1443+76T>C
1 paper
NM_001199298.2
p.E447Splc
c.1339+111T>C
9 papers
NM_001199298.2
p.P435L
c.1304C>T
1 paper
NM_001199298.2
p.V432insFs
c.1294_1295ins5
1 paper
NM_001199298.2
p.S430N
c.1289G>A
1 paper
NM_001199298.2
p.S421Splc
c.1263-45G>A
1 paper
NM_001199298.2
p.S421Splc
c.1262+82G>A
1 paper
NM_001199298.2
p.S421Splc
c.1262+46G>A
1 paper
NM_001199298.2
p.Q403delFs
c.1209delT
1 paper
NM_001199298.2
p.S401F
c.1202C>T
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