Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q414K

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.Q414K
c.1240C>A
Surrounding Variants
11 papers
NM_032043.3
p.Q414*
c.1240C>T
2 papers
NM_032043.3
p.V413fs
c.1237_1238fs
1 paper
NM_032043.3
p.Q414L
c.1241A>T
1 paper
NM_032043.3
p.V413fs
c.1237_1238fs
8 papers
NM_032043.3
p.E412delFs
c.1236delT
1 paper
NM_032043.3
p.E404_E412delFs
c.1211_1235del25
1 paper
NM_032043.3
p.L415P
c.1244T>C
2 papers
NM_032043.3
p.E412fs
c.1234_1235fs
1 paper
NM_032043.3
p.E412delFs
c.1234_1235delTC
1 paper
NM_032043.3
p.E412insFs
c.1234_1235insC
1 paper
NM_032043.3
p.R416W
c.1246C>T
1 paper
NM_032043.3
p.E412fs
c.1234_1235fs
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