Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.E633K

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
Selected Variant
1 paper
NM_032251.6
p.E633K
c.1897G>A
Surrounding Variants
1 paper
NM_032251.6
p.A629P
c.1885G>C
1 paper
NM_032251.6
p.E637A
c.1910A>C
3 papers
NM_032251.6
p.W639R
c.1915T>A
4 papers
NM_032251.6
p.W639R
c.1915T>C
2 papers
NM_032251.6
p.W639*
c.1916G>A
1 paper
NM_032251.6
p.W639*
c.1917G>A
1 paper
NM_032251.6
p.K613K
c.1839A>G
1 paper
NM_032251.6
p.S657F
c.1970C>T
1 paper
NM_032251.6
p.S600C
c.1798A>T
1 paper
NM_032251.6
p.R594H
c.1781G>A
1 paper
NM_032251.6
p.R680K
c.2039G>A
1 paper
NM_032251.6
p.E584fs
c.1750_1751fs
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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."