Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.E578K

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.E578K
c.1732G>A
Surrounding Variants
1 paper
NM_032251.6
p.S581C
c.1742C>G
1 paper
NM_032251.6
p.P582H
c.1745C>A
1 paper
NM_032251.6
p.V583insFs
c.1748_1749ins11
1 paper
NM_032251.6
p.E584fs
c.1750_1751fs
1 paper
NM_032251.6
p.P561P
c.1683C>T
1 paper
NM_032251.6
p.R594H
c.1781G>A
1 paper
NM_032251.6
p.L562insFs
c.1684dupC
1 paper
NM_032251.6
p.A558T
c.1672G>A
1 paper
NM_032251.6
p.S600C
c.1798A>T
1 paper
NM_032251.6
p.P555T
c.1663C>A
1 paper
NM_032251.6
p.E546E
c.1638G>A
1 paper
NM_032251.6
p.K613K
c.1839A>G
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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."