Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.L343delFs

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
2 papers
NM_032251.6
p.L343delFs
c.1028delT
Surrounding Variants
2 papers
NM_032251.6
p.Q300*
c.898C>T
2 papers
NM_032251.6
p.S284C
c.851C>G
1 paper
NM_032251.6
p.S360A
c.1078T>G
1 paper
NM_032251.6
p.G361R
c.1081G>A
1 paper
NM_032251.6
p.H254Q
c.762C>A
1 paper
NM_032251.6
p.H254Q
c.762C>G
1 paper
NM_032251.6
p.A365A
c.1095G>C
1 paper
NM_032251.6
p.E250K
c.748G>A
1 paper
NM_032251.6
p.P244S
c.730C>T
1 paper
NM_032251.6
p.E242V
c.725A>T
1 paper
NM_032251.6
p.R383W
c.1147C>T
1 paper
NM_032251.6
p.E386K
c.1156G>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."