Varaico: Literature-Extracted Genetic Variants

Gene:CEP43
Variant:p.G356D

CEP43

55 papers

RefSeq Summary

This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the...

Pfam Domains

FOP_dimeraa 54–134UCSCFOP N terminal dimerisation domain

Gene Aliases

HGNC Name

centrosomal protein 43

HGNC Alias Symbol

FOP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007045.4
p.G356D
c.1067G>A
Surrounding Variants
1 paper
NM_007045.4
p.D377fs
c.1129_1130fs
1 paper
NM_007045.4
p.E396delFs
c.1187delA
1 paper
NM_007045.4
p.D397fs
c.1189_1190fs
1 paper
NM_007045.4
p.G328E
c.983G>A
1 paper
NM_007045.4
p.G328V
c.983G>T
2 papers
NM_007045.4
p.G328R
c.982G>A
2 papers
NM_007045.4
p.G328R
c.982G>C
1 paper
NM_007045.4
p.G325A
c.974G>C
1 paper
NM_007045.4
p.S321fs
c.961_962fs
1 paper
NM_007045.4
p.L319insFs
c.956dupT
1 paper
NM_007045.4
p.Q276E
c.826C>G
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