Varaico: Literature-Extracted Genetic Variants

Gene:BRCC3
Variant:p.L14_E15del1

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.L14_E15del1
c.42_44delCGA
Surrounding Variants
2 papers
NM_001018055.3
p.E15*
c.43G>T
1 paper
NM_001018055.3
p.L14_E15del2
c.40_44del6
1 paper
NM_001018055.3
p.E15_L23del9
c.43_68del27
1 paper
NM_001018055.3
p.E15D
c.45G>C
1 paper
NM_001018055.3
p.E15D
c.45G>T
2 papers
NM_001018055.3
p.V12F
c.34G>T
1 paper
NM_001018055.3
p.A11G
c.32C>G
1 paper
NM_001018055.3
p.Q10P
c.29A>C
5 papers
NM_001018055.3
p.Q10*
c.28C>T
1 paper
NM_001018055.3
p.L20R
c.59T>G
6 papers
NM_001018055.3
p.Q7*
c.19C>T
1 paper
NM_001018055.3
p.V5A
c.14T>C
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