Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L340V

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.L340V
c.1018C>G
Surrounding Variants
15 papers
NM_032043.3
p.L340F
c.1018C>T
1 paper
NM_032043.3
p.L340R
c.1019T>G
1 paper
NM_032043.3
p.L340insFs
c.1018_1019insCT
1 paper
NM_032043.3
p.L340L
c.1020T>A
1 paper
NM_032043.3
p.E339insFs
c.1016_1017insT
4 papers
NM_032043.3
p.E339*
c.1015G>T
2 papers
NM_032043.3
p.V341I
c.1021G>A
1 paper
NM_032043.3
p.E339fs
c.1015_1016fs
1 paper
NM_032043.3
p.V341D
c.1022T>A
1 paper
NM_032043.3
p.E338D
c.1014A>T
1 paper
NM_032043.3
p.E338D
c.1014A>C
2 papers
NM_032043.3
p.E338K
c.1012G>A
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