Varaico: Literature-Extracted Genetic Variants

Gene:CEP112
Variant:p.D335_Q336del2

CEP112

67 papers

RefSeq Summary

This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is al...

Pfam Domains

DUF4485aa 13–98UCSCDomain of unknown function (DUF4485)
DUF4485aa 13–98UCSCDomain of unknown function (DUF4485)

Gene Aliases

HGNC Name

centrosomal protein 112

HGNC Previous Symbol

CCDC46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199165.4
p.D335_Q336del2
c.1003_1007del6
Surrounding Variants
1 paper
NM_001199165.4
p.V328A
c.983T>C
1 paper
NM_001199165.4
p.K357insFs
c.1069_1070insAC
1 paper
NM_001199165.4
p.V319Splc
c.955+66A>T
1 paper
NM_001199165.4
p.V283A
c.848T>C
1 paper
NM_001199165.4
p.K272R
c.815A>G
1 paper
NM_001199165.4
p.K358_L359Splc
c.1075-65C>T
1 paper
NM_001199165.4
p.K358_L359Splc
c.1075-10C>T
2 papers
NM_001199165.4
p.A364G
c.1091C>G
1 paper
NM_001199165.4
p.T378_E379del2
c.1132_1136del6
1 paper
NM_001199165.4
p.S405F
c.1214C>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."