Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L43fs

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
3 papers
NM_032043.3
p.L43fs
c.127_128fs
Surrounding Variants
1 paper
NM_032043.3
p.C42*
c.126T>A
4 papers
NM_032043.3
p.L43fs
c.127_128fs
1 paper
NM_032043.3
p.C42S
c.125G>C
1 paper
NM_032043.3
p.C42delFs
c.124delA
1 paper
NM_032043.3
p.C42S
c.124T>A
1 paper
NM_032043.3
p.C42fs
c.124_125fs
7 papers
NM_032043.3
p.L43_L44delFs
c.128_131del4
1 paper
NM_032043.3
p.H41R
c.122A>G
11 papers
NM_032043.3
p.E45*
c.133G>T
1 paper
NM_032043.3
p.H41Y
c.121C>T
1 paper
NM_032043.3
p.E45V
c.134A>T
2 papers
NM_032043.3
p.E45D
c.135G>C
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