Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88B
Variant:p.A456P

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.A456P
c.1366G>C
Surrounding Variants
1 paper
NM_032251.6
p.E467G
c.1400A>G
1 paper
NM_032251.6
p.E467D
c.1401G>T
1 paper
NM_032251.6
p.R469Q
c.1406G>A
1 paper
NM_032251.6
p.L474P
c.1421T>C
1 paper
NM_032251.6
p.G484S
c.1450G>A
1 paper
NM_032251.6
p.P492L
c.1475C>T
2 papers
NM_032251.6
p.S436C
c.1307C>G
1 paper
NM_032251.6
p.E503K
c.1507G>A
1 paper
NM_032251.6
p.E503*
c.1507G>T
1 paper
NM_032251.6
p.R409W
c.1225C>T
1 paper
NM_032251.6
p.L408M
c.1222C>A
1 paper
NM_032251.6
p.E546E
c.1638G>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."