Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.E42D

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.E42D
c.126G>C
Surrounding Variants
1 paper
NM_032251.6
p.G36A
c.107G>C
1 paper
NM_032251.6
p.G36R
c.106G>A
1 paper
NM_032251.6
p.G36R
c.106G>C
1 paper
NM_032251.6
p.F53V
c.157T>G
1 paper
NM_032251.6
p.G23R
c.67G>A
1 paper
NM_032251.6
p.A87V
c.260C>T
1 paper
NM_032251.6
p.E2K
c.4G>A
1 paper
NM_032251.6
p.E2*
c.4G>T
1 paper
NM_032251.6
p.P117S
c.349C>T
1 paper
NM_032251.6
p.F125C
c.374T>G
1 paper
NM_032251.6
p.L128I
c.382C>A
1 paper
NM_032251.6
p.A132S
c.394G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."