Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.H124Q

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
4 papers
NM_001018055.3
p.H124Q
c.372T>A
Surrounding Variants
4 papers
NM_001018055.3
p.H124Q
c.372T>G
1 paper
NM_001018055.3
p.P125R
c.374C>G
2 papers
NM_001018055.3
p.H122Q
c.366T>A
1 paper
NM_001018055.3
p.H126Q
c.378T>A
2 papers
NM_001018055.3
p.H122Q
c.366T>G
1 paper
NM_001018055.3
p.H126Q
c.378T>G
2 papers
NM_001018055.3
p.H122R
c.365A>G
1 paper
NM_001018055.3
p.T128fs
c.382_383fs
2 papers
NM_001018055.3
p.T128P
c.382A>C
1 paper
NM_001018055.3
p.Y121C
c.362A>G
1 paper
NM_001018055.3
p.V129_W130delFs
c.386_389del4
4 papers
NM_001018055.3
p.W120*
c.360G>A
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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."