Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.E183Splc

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.E183Splc
c.548+1G>A
Surrounding Variants
1 paper
NM_001018055.3
p.E183A
c.548A>C
1 paper
NM_001018055.3
p.E183*
c.547G>T
1 paper
NM_001018055.3
p.E183delFs
c.548delA
1 paper
NM_001018055.3
p.E183fs
c.547_548fs
1 paper
NM_001018055.3
p.K180N
c.540G>C
1 paper
NM_001018055.3
p.K180N
c.540G>T
1 paper
NM_001018055.3
p.A178T
c.532G>A
2 papers
NM_001018055.3
p.Q174R
c.521A>G
3 papers
NM_001018055.3
p.Q174*
c.520C>T
1 paper
NM_001018055.3
p.L169R
c.506T>G
1 paper
NM_001018055.3
p.R167W
c.499C>T
1 paper
NM_001018055.3
p.K164_T165Splc
c.492+2T>C
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."