Varaico: Literature-Extracted Genetic Variants

Gene:CEP43
Variant:p.K50E

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
1 paper
NM_007045.4
p.K50E
c.148A>G
Surrounding Variants
1 paper
NM_007045.4
p.R32H
c.95G>A
1 paper
NM_007045.4
p.E25delFs
c.74delA
1 paper
NM_007045.4
p.M1L
c.1A>C
1 paper
NM_007045.4
p.M1L
c.1A>T
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