Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.E404delFs

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.E404delFs
c.1211delT
Surrounding Variants
1 paper
NM_032043.3
p.S405*
c.1214C>G
1 paper
NM_032043.3
p.S405*
c.1214C>A
1 paper
NM_032043.3
p.R403delFs
c.1209delC
1 paper
NM_032043.3
p.L392_S405delFs
c.1175_1214del40
1 paper
NM_032043.3
p.A406S
c.1216G>T
1 paper
NM_032043.3
p.E404K
c.1210G>A
1 paper
NM_032043.3
p.A406V
c.1217C>T
1 paper
NM_032043.3
p.A406G
c.1217C>G
7 papers
NM_032043.3
p.R403Q
c.1208G>A
8 papers
NM_032043.3
p.R403W
c.1207C>T
1 paper
NM_032043.3
p.S407G
c.1219A>G
2 papers
NM_032043.3
p.A402fs
c.1204_1205fs
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