Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.V5A

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.V5A
c.14T>C
Surrounding Variants
2 papers
NM_001018055.3
p.V9_V12del0
c.27_35del9
1 paper
NM_001018055.3
p.V5fs
c.13_14fs
1 paper
NM_001018055.3
p.Q4H
c.12G>C
1 paper
NM_001018055.3
p.V5delFs
c.14_15delTG
1 paper
NM_001018055.3
p.Q4R
c.11A>G
1 paper
NM_001018055.3
p.V5_A8del4
c.13_23del12
3 papers
NM_001018055.3
p.Q4*
c.10C>T
6 papers
NM_001018055.3
p.Q7*
c.19C>T
1 paper
NM_001018055.3
p.A2_V3delFs
c.5_8del4
5 papers
NM_001018055.3
p.Q10*
c.28C>T
1 paper
NM_001018055.3
p.Q10P
c.29A>C
1 paper
NM_001018055.3
p.A11G
c.32C>G
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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."