Varaico: Literature-Extracted Genetic Variants

Gene:BBOF1
Variant:p.F152L

BBOF1

22 papers

Pfam Domains

DUF4515aa 77–270UCSCDomain of unknown function (DUF4515)

Gene Aliases

HGNC Name

basal body orientation factor 1

HGNC Previous Symbols

C14orf45; CCDC176

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025057.3
p.F152L
c.454T>C
Surrounding Variants
1 paper
NM_025057.3
p.F152L
c.456C>A
1 paper
NM_025057.3
p.F152L
c.456C>G
1 paper
NM_025057.3
p.V159delFs
c.476delT
1 paper
NM_025057.3
p.D165_L166Splc
c.495+3A>T
1 paper
NM_025057.3
p.Q119Q
c.357A>G
1 paper
NM_025057.3
p.E118G
c.353A>G
1 paper
NM_025057.3
p.L117L
c.351G>A
1 paper
NM_025057.3
p.M95_I96Splc
c.286-3C>A
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