Varaico: Literature-Extracted Genetic Variants

Gene:CEP120

CEP120

129 papers

RefSeq Summary

This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, whic...

Pfam Domains

C2aa 8–114UCSCC2 domain
DUF3668aa 166–340UCSCCep120 protein
C2aa 516–566UCSCC2 domain

Gene Aliases

HGNC Name

centrosomal protein 120

HGNC Previous Symbol

CCDC100

Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
10 papers
NM_001375405.1
p.A199P
c.595G>C
7 papers
NM_001375405.1
p.L712F
c.2134C>T
6 papers
NM_001375405.1
p.L602V
c.1804C>G
5 papers
NM_001375405.1
p.R947H
c.2840G>A
5 papers
NM_001375405.1
p.I975S
c.2924T>G
4 papers
NM_001375405.1
p.V194A
c.581T>C
4 papers
NM_001375405.1
p.L726P
c.2177T>C
3 papers
NM_001375405.1
p.H68N
c.202C>A
3 papers
NM_001375405.1
p.R260H
c.779G>A
3 papers
NM_001375405.1
p.A549V
c.1646C>T
3 papers
NM_001375405.1
p.Q879H
c.2637G>T
3 papers
NM_001375405.1
p.Q879H
c.2637G>C
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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."