Varaico: Literature-Extracted Genetic Variants

Gene:CCDC28B
Variant:p.V88A

CCDC28B

41 papers

RefSeq Summary

The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cili...

Pfam Domains

CCDC28aa 86–184UCSCCoiled-coil domain-containing protein 28

Gene Aliases

HGNC Name

coiled-coil domain containing 28B

HGNC Alias Symbols

MGC1203; RP4-622L5.5; LTAP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024296.5
p.V88A
c.263T>C
Surrounding Variants
1 paper
NM_024296.5
p.A73V
c.218C>T
1 paper
NM_024296.5
p.S72Y
c.215C>A
9 papers
NM_024296.5
p.F110F
c.330C>T
1 paper
NM_024296.5
p.R62G
c.184C>G
1 paper
NM_024296.5
p.K128_L129delFs
c.384_387del4
1 paper
NM_024296.5
p.H133Y
c.397C>T
1 paper
NM_024296.5
p.T163I
c.488C>T
1 paper
NM_024296.5
p.M164V
c.490A>G
1 paper
NM_024296.5
p.R167H
c.500G>A
1 paper
NM_024296.5
p.L169P
c.506T>C
1 paper
NM_024296.5
p.N175_L176Splc
c.525+2T>C
1 paper
NM_024296.5
p.S182Y
c.545C>A
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