Varaico: Literature-Extracted Genetic Variants

Gene:CEP72
Variant:p.E444K

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.E444K
c.1330G>A
Surrounding Variants
1 paper
NM_018140.4
p.E424K
c.1270G>A
1 paper
NM_018140.4
p.A421V
c.1262C>T
5 papers
NM_018140.4
p.P412T
c.1234C>A
2 papers
NM_018140.4
p.G406R
c.1216G>A
1 paper
NM_018140.4
p.G406R
c.1216G>C
1 paper
NM_018140.4
p.A448Splc
c.1343-4C>G
1 paper
NM_018140.4
p.E480K
c.1438G>A
1 paper
NM_018140.4
p.L484R
c.1451T>G
1 paper
NM_018140.4
p.R487H
c.1460G>A
1 paper
NM_018140.4
p.E490_Q491del2
c.1468_1472del6
2 papers
NM_018140.4
p.E490*
c.1468G>T
1 paper
NM_018140.4
p.E490_Q491del1
c.1469_1471delAGC
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."