Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L343M

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.L343M
c.1027C>A
Surrounding Variants
1 paper
NM_032043.3
p.L343L
c.1027C>T
1 paper
NM_032043.3
p.S342fs
c.1024_1025fs
1 paper
NM_032043.3
p.V341delFs
c.1023delG
1 paper
NM_032043.3
p.V341D
c.1022T>A
2 papers
NM_032043.3
p.V341I
c.1021G>A
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.K345T
c.1034A>C
1 paper
NM_032043.3
p.L340R
c.1019T>G
15 papers
NM_032043.3
p.L340F
c.1018C>T
1 paper
NM_032043.3
p.L340V
c.1018C>G
1 paper
NM_032043.3
p.K346T
c.1037A>C
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