Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.K346T

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.K346T
c.1037A>C
Surrounding Variants
3 papers
NM_032043.3
p.L347P
c.1040T>C
1 paper
NM_032043.3
p.K345T
c.1034A>C
1 paper
NM_032043.3
p.L347_K348delins
c.1041_1044delinsT
53 papers
NM_032043.3
p.A349P
c.1045G>C
1 paper
NM_032043.3
p.A349T
c.1045G>A
2 papers
NM_032043.3
p.A349V
c.1046C>T
1 paper
NM_032043.3
p.L343L
c.1027C>T
1 paper
NM_032043.3
p.L343M
c.1027C>A
1 paper
NM_032043.3
p.C350R
c.1048T>C
1 paper
NM_032043.3
p.C350S
c.1048T>A
2 papers
NM_032043.3
p.C350F
c.1049G>T
1 paper
NM_032043.3
p.C350S
c.1049G>C
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