Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.E1329fs

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.E1329fs
c.3985_3986fs
Surrounding Variants
2 papers
NM_032251.6
p.E1329delFs
c.3987delG
1 paper
NM_032251.6
p.G1331fs
c.3991_3992fs
1 paper
NM_032251.6
p.P1333T
c.3997C>A
1 paper
NM_032251.6
p.G1334fs
c.4000_4001fs
1 paper
NM_032251.6
p.W1315C
c.3945G>C
1 paper
NM_032251.6
p.W1315C
c.3945G>T
1 paper
NM_032251.6
p.G1351fs
c.4051_4052fs
1 paper
NM_032251.6
p.G1351insFs
c.4053dupC
1 paper
NM_032251.6
p.Q1298K
c.3892C>A
1 paper
NM_032251.6
p.R1286R
c.3858C>T
3 papers
NM_032251.6
p.D1279E
c.3837C>A
3 papers
NM_032251.6
p.D1279E
c.3837C>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."