Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.F125C

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.F125C
c.374T>G
Surrounding Variants
1 paper
NM_032251.6
p.L128I
c.382C>A
1 paper
NM_032251.6
p.P117S
c.349C>T
1 paper
NM_032251.6
p.A132S
c.394G>T
1 paper
NM_032251.6
p.A146V
c.437C>T
1 paper
NM_032251.6
p.A87V
c.260C>T
1 paper
NM_032251.6
p.L163P
c.488T>C
1 paper
NM_032251.6
p.G184R
c.550G>C
1 paper
NM_032251.6
p.V185M
c.553G>A
1 paper
NM_032251.6
p.V186M
c.556G>A
1 paper
NM_032251.6
p.F53V
c.157T>G
3 papers
NM_032251.6
p.D193E
c.579T>A
4 papers
NM_032251.6
p.D193E
c.579T>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."