Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.I74V

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
3 papers
NM_001018055.3
p.I74V
c.220A>G
Surrounding Variants
1 paper
NM_001018055.3
p.I74N
c.221T>A
1 paper
NM_001018055.3
p.H75R
c.224A>G
1 paper
NM_001018055.3
p.S76F
c.227C>T
2 papers
NM_001018055.3
p.V69I
c.205G>A
1 paper
NM_001018055.3
p.V69_R70delFs
c.205_208del4
1 paper
NM_001018055.3
p.L80delFs
c.239delT
1 paper
NM_001018055.3
p.L80insFs
c.238_239insA
1 paper
NM_001018055.3
p.D67E
c.201T>A
1 paper
NM_001018055.3
p.D67E
c.201T>G
1 paper
NM_001018055.3
p.L80insFs
c.240dupA
1 paper
NM_001018055.3
p.R81G
c.241C>G
7 papers
NM_001018055.3
p.R81*
c.241C>T
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