Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.T711S

BRIP1

1,648 papers

RefSeq Summary

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-...

Pfam Domains

DEAD_2aa 248–415UCSCDEAD_2
Helicase_C_2aa 680–867UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

BRCA1 interacting DNA helicase 1

HGNC Alias Symbols

OF; FANCJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032043.3
p.T711S
c.2132C>G
Surrounding Variants
1 paper
NM_032043.3
p.T711S
c.2131A>T
3 papers
NM_032043.3
p.T711A
c.2131A>G
1 paper
NM_032043.3
p.L713V
c.2137T>G
2 papers
NM_032043.3
p.L713*
c.2138T>G
1 paper
NM_032043.3
p.L709R
c.2126T>G
2 papers
NM_032043.3
p.L713*
c.2138T>A
1 paper
NM_032043.3
p.W708C
c.2124G>T
1 paper
NM_032043.3
p.W708C
c.2124G>C
1 paper
NM_032043.3
p.W708*
c.2124G>A
1 paper
NM_032043.3
p.W714*
c.2141G>A
1 paper
NM_032043.3
p.W708*
c.2123G>A
1 paper
NM_032043.3
p.W714*
c.2142G>A
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