Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Y352fs

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.Y352fs
c.1054_1055fs
Surrounding Variants
1 paper
NM_032043.3
p.Y352insFs
c.1054_1055ins5
3 papers
NM_032043.3
p.Y352H
c.1054T>C
1 paper
NM_032043.3
p.Y352C
c.1055A>G
1 paper
NM_032043.3
p.Y352*
c.1056T>G
1 paper
NM_032043.3
p.Y352*
c.1056T>A
2 papers
NM_032043.3
p.P351L
c.1052C>T
1 paper
NM_032043.3
p.Y353H
c.1057T>C
1 paper
NM_032043.3
p.Y353fs
c.1057_1058fs
1 paper
NM_032043.3
p.A349_C350delFs
c.1046_1049del4
1 paper
NM_032043.3
p.Y353C
c.1058A>G
1 paper
NM_032043.3
p.Y353ins1
c.1058_1059insGTT
2 papers
NM_032043.3
p.C350F
c.1049G>T
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