Varaico: Literature-Extracted Genetic Variants

Gene:BBOF1
Variant:p.T526_G527Splc

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.T526_G527Splc
c.1579-11A>G
Surrounding Variants
1 paper
NM_025057.3
p.K496E
c.1486A>G
1 paper
NM_025057.3
p.Y476delFs
c.1426_1427delTA
1 paper
NM_025057.3
p.Y476del1
c.1426_1427delTAT
1 paper
NM_025057.3
p.M457I
c.1371G>A
1 paper
NM_025057.3
p.M457I
c.1371G>C
1 paper
NM_025057.3
p.M457I
c.1371G>T
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