Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.C1222F

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.C1222F
c.3665G>T
Surrounding Variants
1 paper
NM_032251.6
p.C1228Y
c.3683G>A
1 paper
NM_032251.6
p.S1207R
c.3621C>A
1 paper
NM_032251.6
p.S1207R
c.3621C>G
1 paper
NM_032251.6
p.S1207R
c.3619A>C
1 paper
NM_032251.6
p.L1198M
c.3592C>A
1 paper
NM_032251.6
p.R1190W
c.3568C>T
1 paper
NM_032251.6
p.R1186S
c.3556C>A
2 papers
NM_032251.6
p.E1181K
c.3541G>A
1 paper
NM_032251.6
p.L1234L
c.3700C>T
1 paper
NM_032251.6
p.R1243L
c.3728G>T
2 papers
NM_032251.6
p.R1254W
c.3760C>T
1 paper
NM_032251.6
p.R1267Q
c.3800G>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."