Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.T953I

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.T953I
c.2858C>T
Surrounding Variants
8 papers
NM_032043.3
p.I952V
c.2854A>G
1 paper
NM_032043.3
p.N955H
c.2863A>C
1 paper
NM_032043.3
p.S956L
c.2867C>T
2 papers
NM_032043.3
p.S956*
c.2867C>G
2 papers
NM_032043.3
p.S956*
c.2867C>A
1 paper
NM_032043.3
p.K950T
c.2849A>C
1 paper
NM_032043.3
p.K950*
c.2848A>T
1 paper
NM_032043.3
p.L958Q
c.2873T>A
1 paper
NM_032043.3
p.Q947delFs
c.2839_2840delTG
1 paper
NM_032043.3
p.Q947R
c.2840A>G
1 paper
NM_032043.3
p.Q947fs
c.2839_2840fs
1 paper
NM_032043.3
p.S960T
c.2879G>C
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