Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B

CCDC88B

115 papers

RefSeq Summary

This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal ...

Pfam Domains

HOOK_Naa 51–177UCSCHOOK domain

Gene Aliases

HGNC Name

coiled-coil and HOOK domain protein 88B

HGNC Previous Symbol

CCDC88

Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
4 papers
NM_032251.6
p.D193E
c.579T>G
4 papers
NM_032251.6
p.W639R
c.1915T>C
3 papers
NM_032251.6
p.D193E
c.579T>A
3 papers
NM_032251.6
p.W639R
c.1915T>A
3 papers
NM_032251.6
p.D1279E
c.3837C>A
3 papers
NM_032251.6
p.D1279E
c.3837C>G
2 papers
NM_032251.6
p.S284C
c.851C>G
2 papers
NM_032251.6
p.Q300*
c.898C>T
2 papers
NM_032251.6
p.L343delFs
c.1028delT
2 papers
NM_032251.6
p.S436C
c.1307C>G
2 papers
NM_032251.6
p.W639*
c.1916G>A
2 papers
NM_032251.6
p.A960T
c.2878G>A
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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."