Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.V316G

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.V316G
c.947T>G
Surrounding Variants
1 paper
NM_032043.3
p.H317Y
c.949C>T
1 paper
NM_032043.3
p.K318T
c.953A>C
2 papers
NM_032043.3
p.Y313*
c.939T>G
2 papers
NM_032043.3
p.Y313*
c.939T>A
1 paper
NM_032043.3
p.I319T
c.956T>C
1 paper
NM_032043.3
p.Y313insFs
c.937dupT
1 paper
NM_032043.3
p.F312del1
c.934_935delAAA
1 paper
NM_032043.3
p.Y313fs
c.937_938fs
1 paper
NM_032043.3
p.S320fs
c.958_959fs
1 paper
NM_032043.3
p.S320T
c.959G>C
1 paper
NM_032043.3
p.S320N
c.959G>A
1 paper
NM_032043.3
p.S320delFs
c.958delT
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