Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.K386*

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.K386*
c.1156A>T
Surrounding Variants
1 paper
NM_032043.3
p.K386E
c.1156A>G
1 paper
NM_032043.3
p.N384_L385delFs
c.1152_1153delGA
1 paper
NM_032043.3
p.E387K
c.1159G>A
1 paper
NM_032043.3
p.L385V
c.1153C>G
1 paper
NM_032043.3
p.L385M
c.1153C>A
2 papers
NM_032043.3
p.Q388*
c.1162C>T
1 paper
NM_032043.3
p.E387insFs
c.1161dupA
1 paper
NM_032043.3
p.Q388H
c.1164G>T
1 paper
NM_032043.3
p.Q388H
c.1164G>C
1 paper
NM_032043.3
p.V389F
c.1165G>T
1 paper
NM_032043.3
p.D382G
c.1145A>G
1 paper
NM_032043.3
p.V390F
c.1168G>T
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