Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.E95*

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.E95*
c.283G>T
Surrounding Variants
1 paper
NM_001018055.3
p.S93A
c.277T>G
1 paper
NM_001018055.3
p.V90A
c.269T>C
1 paper
NM_001018055.3
p.V90fs
c.268_269fs
1 paper
NM_001018055.3
p.V90_S98delFs
c.269_293del25
1 paper
NM_001018055.3
p.R89R
c.267A>T
6 papers
NM_001018055.3
p.R89*
c.265C>T
1 paper
NM_001018055.3
p.R89_L97delFs
c.266_290del25
1 paper
NM_001018055.3
p.S101A
c.301T>G
1 paper
NM_001018055.3
p.R86delFs
c.256delA
1 paper
NM_001018055.3
p.K85fs
c.253_254fs
1 paper
NM_001018055.3
p.K85insFs
c.254dupA
1 paper
NM_001018055.3
p.K85delFs
c.253delA
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