Varaico: Literature-Extracted Genetic Variants

Gene:CEP72
Variant:p.D316N

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
4 papers
NM_018140.4
p.D316N
c.946G>A
Surrounding Variants
4 papers
NM_018140.4
p.K314R
c.941A>G
1 paper
NM_018140.4
p.L317F
c.951G>C
1 paper
NM_018140.4
p.L317F
c.951G>T
1 paper
NM_018140.4
p.Q313E
c.937C>G
1 paper
NM_018140.4
p.M321V
c.961A>G
1 paper
NM_018140.4
p.S309L
c.926C>T
4 papers
NM_018140.4
p.M304V
c.910A>G
1 paper
NM_018140.4
p.E349K
c.1045G>A
1 paper
NM_018140.4
p.H358fs
c.1072_1073fs
1 paper
NM_018140.4
p.S387L
c.1160C>T
1 paper
NM_018140.4
p.E388K
c.1162G>A
2 papers
NM_018140.4
p.G406R
c.1216G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."