Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.A960T

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.A960T
c.2878G>A
Surrounding Variants
1 paper
NM_032251.6
p.R967H
c.2900G>A
1 paper
NM_032251.6
p.R979Q
c.2936G>A
1 paper
NM_032251.6
p.R1014H
c.3041G>A
1 paper
NM_032251.6
p.S1037F
c.3110C>T
1 paper
NM_032251.6
p.I1041F
c.3121A>T
1 paper
NM_032251.6
p.E1055V
c.3164A>T
1 paper
NM_032251.6
p.R1058W
c.3172C>T
1 paper
NM_032251.6
p.A1060V
c.3179C>T
1 paper
NM_032251.6
p.S1063fs
c.3187_3188fs
1 paper
NM_032251.6
p.S1063delFs
c.3189delC
1 paper
NM_032251.6
p.S1063S
c.3189C>T
1 paper
NM_032251.6
p.R1098W
c.3292C>T
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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."