Varaico: Literature-Extracted Genetic Variants

Gene:CCDC28B

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
1–12 of 22 variants
9 papers
NM_024296.5
p.R25W
c.73C>T
9 papers
NM_024296.5
p.F110F
c.330C>T
1 paper
NM_024296.5
p.M1delFs
c.1_2delAT
1 paper
NM_024296.5
p.M1_D2del2
c.1_5del6
1 paper
NM_024296.5
p.M1K
c.2T>A
1 paper
NM_024296.5
p.K4N
c.12A>C
1 paper
NM_024296.5
p.K4N
c.12A>T
1 paper
NM_024296.5
p.G35G
c.105C>A
1 paper
NM_024296.5
p.R62G
c.184C>G
1 paper
NM_024296.5
p.S72Y
c.215C>A
1 paper
NM_024296.5
p.A73V
c.218C>T
1 paper
NM_024296.5
p.V88A
c.263T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."