Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.W130*

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
2 papers
NM_001018055.3
p.W130*
c.389G>A
Surrounding Variants
2 papers
NM_001018055.3
p.W130*
c.390G>A
2 papers
NM_001018055.3
p.V129F
c.385G>T
1 paper
NM_001018055.3
p.S132A
c.394T>G
1 paper
NM_001018055.3
p.V129_W130delFs
c.386_389del4
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.H133fs
c.397_398fs
1 paper
NM_001018055.3
p.H133delFs
c.399delT
1 paper
NM_001018055.3
p.V134delFs
c.402delT
1 paper
NM_001018055.3
p.H126Q
c.378T>A
1 paper
NM_001018055.3
p.H126Q
c.378T>G
1 paper
NM_001018055.3
p.D135N
c.403G>A
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