Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.L152_I153insFs

BRCC3

105 papers

RefSeq Summary

This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable ...

Pfam Domains

JABaa 7–148UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease
BRCC36_Caa 228–308UCSCBRCC36 C-terminal helical domain

Gene Aliases

HGNC Name

BRCA1/BRCA2-containing complex subunit 3

HGNC Previous Symbol

CXorf53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018055.3
p.L152_I153insFs
c.456_457ins5
Surrounding Variants
2 papers
NM_001018055.3
p.L152H
c.455T>A
1 paper
NM_001018055.3
p.L152fs
c.454_455fs
1 paper
NM_001018055.3
p.I153_F154insFs
c.457_460dup4
1 paper
NM_001018055.3
p.C156R
c.466T>C
2 papers
NM_001018055.3
p.I158K
c.473T>A
1 paper
NM_001018055.3
p.D160G
c.479A>G
1 paper
NM_001018055.3
p.K161N
c.483G>C
1 paper
NM_001018055.3
p.K161N
c.483G>T
1 paper
NM_001018055.3
p.T163delFs
c.488_489delCA
1 paper
NM_001018055.3
p.T163del1
c.487_489delACA
2 papers
NM_001018055.3
p.T163fs
c.487_488fs
1 paper
NM_001018055.3
p.T163delFs
c.489delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."