Varaico: Literature-Extracted Genetic Variants

Gene:CEP72
Variant:p.P278L

CEP72

72 papers

RefSeq Summary

The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major micro...

Pfam Domains

LRR_9aa 40–163UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

centrosomal protein 72

HGNC Alias Symbols

KIAA1519; FLJ10565

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018140.4
p.P278L
c.833C>T
Surrounding Variants
1 paper
NM_018140.4
p.E284fs
c.850_851fs
1 paper
NM_018140.4
p.S288F
c.863C>T
1 paper
NM_018140.4
p.P291A
c.871C>G
2 papers
NM_018140.4
p.D247H
c.739G>C
5 papers
NM_018140.4
p.P238L
c.713C>T
1 paper
NM_018140.4
p.S218_Q219insAT
c.652_656ins6
1 paper
NM_018140.4
p.F217_S218insG
c.649_653ins3
1 paper
NM_018140.4
p.T215M
c.644C>T
1 paper
NM_018140.4
p.P211S
c.631C>T
1 paper
NM_018140.4
p.A196G
c.587C>G
1 paper
NM_018140.4
p.Q186*
c.556C>T
1 paper
NM_018140.4
p.A182T
c.544G>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."